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The ABCs of Gene Cloning / / by Dominic W. S. Wong
| The ABCs of Gene Cloning / / by Dominic W. S. Wong |
| Autore | Wong Dominic W. S |
| Edizione | [3rd ed. 2018.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (XIX, 257 p. 172 illus., 1 illus. in color.) |
| Disciplina |
611.01816
599.935 |
| Soggetto topico |
Human genetics
Food—Biotechnology Plant physiology Zoology Human Genetics Food Science Plant Physiology |
| ISBN | 3-319-77982-6 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Fundamentals of Genetic Processes -- Introductory Concepts -- Structures of Nucleic Acids -- Structures of Proteins -- The Genetic Process -- Organization of Genes -- Reading The Nucleotide Sequence of a Gene -- Techniques and Strategies of Gene Cloning -- Enzymes Used in Cloning -- Techniques Used in Cloning -- Cloning Vectors for Introducing Genes into Host Cells -- Transformation -- Isolating Genes for Cloning -- Impact of Gene Cloning -- Improving Tomato Quality by Antisense Rna -- Transgenic Crops Engineered with Insecticidal Activity -- Transgenic Crops Conferred with Herbicide Resistance -- Growth Enhancement in Transgenic Fish -- Impact of Gene Cloning -- Microbial Production of Recombinant Human Insulin -- Finding Disease-Causing Genes -- Human Gene Therapy -- Gene Targeting -- DNA Typing -- Transpharmers - Bioreactors for Pharmaceutical Products -- Animal Cloning -- Human Genome Sequencing -- Manipulating Gene Vector Constructs. |
| Record Nr. | UNINA-9910298420103321 |
Wong Dominic W. S
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| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Adhesion G Protein-coupled Receptors : Molecular, Physiological and Pharmacological Principles in Health and Disease / / edited by Tobias Langenhan, Torsten Schöneberg
| Adhesion G Protein-coupled Receptors : Molecular, Physiological and Pharmacological Principles in Health and Disease / / edited by Tobias Langenhan, Torsten Schöneberg |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (XIV, 403 p. 68 illus., 67 illus. in color.) |
| Disciplina | 613 |
| Collana | Handbook of Experimental Pharmacology |
| Soggetto topico |
Pharmacology
Human physiology Human genetics Cytology Clinical biochemistry Pharmacology/Toxicology Human Physiology Human Genetics Cell Biology Medical Biochemistry |
| ISBN | 3-319-41523-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | PART I. Molecular and Pharmacological Properties of Adhesion GPCRs:-Classification, Nomenclature and Structural Aspects of Adhesion GPCRs -- 7TM Domain Structure of Adhesion GPCRs -- Understanding the Structural Basis of Adhesion GPCR Functions.-Control of Adhesion GPCR Function Through Proteolytic Processing.-Tethered Agonism: A Common Activation Mechanism of Adhesion GPCRs -- Versatile Signaling Activity of Adhesion GPCRs -- Adhesion GPCR-Related Protein Networks.-The Relevance of Genomic Signatures at Adhesion GPCR Loci in Humans -- PART II: Adhesion GPCRs as Pharmakotargets in Organ Function and Development -- Adhesion GPCRs as a Putative Class of Metabotropic Mechanosensors -- Adhesion GPCRs Govern Polarity of Epithelia and Cell Migration -- Adhesion GPCRs as Novel Actors in Neural and Glial Cell Functions: From Synaptogenesis to Myelination.-Control of Skeletal Muscle Cell Growth and Size Through Adhesion GPCRs -- Adhesion GPCR Function in Pulmonary Development and Disease.-Adhesion GPCRs as Modulators of Immune Cell Function.-Heart Development, Angiogenesis, and Blood-Brain Barrier Function is Modulated by Adhesion GPCRs.-Adhesion GPCRs in Tumorigenesis. |
| Record Nr. | UNINA-9910150457103321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Admixture Dynamics, Natural Selection and Diseases in Admixed Populations / / by Wenfei Jin
| Admixture Dynamics, Natural Selection and Diseases in Admixed Populations / / by Wenfei Jin |
| Autore | Jin Wenfei |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Dordrecht : , : Springer Netherlands : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (126 p.) |
| Disciplina | 578.4 |
| Collana | Springer Theses, Recognizing Outstanding Ph.D. Research |
| Soggetto topico |
Human genetics
Bioinformatics Biomathematics Human Genetics Genetics and Population Dynamics |
| ISBN | 94-017-7408-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Distribution of length of ancestral chromosomal segments in admixed genomes -- Exploring population admixture dynamics via distribution of LACS -- Genome-wide search for signatures of natural selection in African Americans -- Complex selective forces shaping the genes underlying human diseases -- Materials and Methods. |
| Record Nr. | UNINA-9910298460503321 |
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Jin Wenfei
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| Dordrecht : , : Springer Netherlands : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Advances in Vision Research, Volume I : Genetic Eye Research in Asia and the Pacific / / edited by Gyan Prakash, Takeshi Iwata
| Advances in Vision Research, Volume I : Genetic Eye Research in Asia and the Pacific / / edited by Gyan Prakash, Takeshi Iwata |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Tokyo : , : Springer Japan : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (XV, 523 p. 71 illus., 55 illus. in color.) |
| Disciplina | 617.7 |
| Collana | Essentials in Ophthalmology |
| Soggetto topico |
Ophthalmology
Human genetics Human Genetics |
| ISBN | 4-431-56511-6 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 1. Foundation of Asian Eye Genetics Consortium (AEGC) (Gyan Prakash, Takeshi Iwata) -- 2. Japan consortium for whole exome analysis of hereditary retinal diseases (Takeshi Iwata) -- 3. Whole-genome sequencing in genetic eye diseases in China (Zi-bing Jin) -- 4. Targeted exome sequencing in Japanese patients with Retinitis Pigmentosa (Maho Oishi, Akio Oishi, Nagahisa Yoshimura) -- 5. Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan (Fielding Hejtmancik, Qiwei Wang, Yabin Chen, Sheikh Riazuddin and S. Amer Riazuddin) -- 6. Genetics of Cataract in Asia (Chitra Kannabiran and Vanita) -- 7. Genetic analysis of families with retinal dystrophies (Qingjiong Zhang) -- 8. Whole genome sequencing in patients with Retinitis Pigmentosa (Koji M. Nishiguchi) -- 9. Retinitis pigmentosa in Korean patients (C.K. Yoon, U.C. Park and H.G. Yu) -- 10. Retinitis pigmentosa in Chinese population (Ruifang Sui and Xuan Zou) -- 11. Retinitis Pigmentosa in Japanese Population (Katsuhiro Hosono, Shinsei Minoshima, Yoshihiro Hotta) -- 12. Cone Dysfunction Syndrome in Japanese Population (Takaaki Hayashi) -- 13. Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population (Kazuki Kuniyoshi and Yoshikazu Shimomura) -- 14. Paradigm of Susceptibility genes in AMD and PCV (Paul N. Baird and Moeen Riaz) -- 15. Genetics and Pathology of Inflammatory Components on AMD (Xiaoxin Li, Lv-Zhen Huang, Peng Zhou and Chi Chao Chan) -- 16. Genome wide association study of age-related eye diseases in Chinese population (Guy L.J. Chen, Shi Song Rong and Calvin C.P. Pang) -- 17. Clinical Genetics of Retinoblastoma: An Asian Perspective (Ashwin Mallipatna and Meghan Marino and Arun Singh) -- 18. Molecular and Clinical Genetics of Retinoblastoma (Jason C.S. Yam, Winnie W. Y. Lau, Wai Kit Chu, L.J. Chen, K. W. Choy, Simon T.C. and Calvin C.P. Pang) -- 19. Current research Perspectives in Understanding Diabetic Retinopathy (A Jayamuruga Pandian, Nagasamy Soumittra, Rajiv Raman, Sarangapani Sripriya) -- 20. Genome-wide association studies of glaucoma (Zachary Dong, Chiea Chuen Khor and Janey L. Wiggs) -- 21. Genetic Complexity of Primary Angle Closure Glaucoma in Asians (Roopam Duvesh, R Venkatesh, S Kavitha, Pradeep Ramulu, SR Krishnadas and P Sundaresan) -- 22. Genotype-phenotype correlation for POAG in the Middle East Khaled Abu-Amero (Saudi Arabia), Alta (A. Kondkar and Ahmed Mousa) -- 23. Corneal Dystrophies in India (Namrata Sharma and Arundhati Sharma) -- 24. Genetics of Corneal Endothelial Dystrophies: An Asian Perspective (Sudha Neelam, Jod Mehta, Eranga Vithana and Vinod Mootha) -- 25. Keratoconus in Asia (Rajiv Mohan, Arkasubhra Ghosh and Rohit Shetty) -- 26. Genetics of Pediatric Eye Diseases and Strabismus in Asia (Zia Chaudhuri and Birgit Lorenz) -- 27. Keratoconus: Globally and in the Middle East; Epidemiology, Genetics and future Research (Ahmed Mousa, Altaf Kondkar and Khaled Abu-Amero) -- 28. Genetics of Myopia (Sushil Kumari Sangwan, Arundhati Sharma, Namrata Sharma, Radhika Tandon) -- 29. Ocular Implications of Gaucher Disease (Mones S. Abu-Asab, Ian Y. L. Yeung, Christopher Ardeljan, Ashley N. Gonzalez, Ellen Sidransky, Chi-Chao Chan) -- 30. Genetic background of Uveitis in Chinese population (Peiziang Yang, Hongsong Yu, Bo Lei and Aize Kijlstra) -- 31. Usher Syndrome in Chinese and Japanese Population (Shi-Ying Li, Linghui Qu, and Xiaohong Meng, and Zheng Qin Yin) -- 32. Homozygosity Mapping for Autosomal Recessive Ocular Diseases (Chandrasekar SatyaPriya, Sundaramoorthy Srilekha, Karthikeyan Sudha, Sarangapani Sripriya, Nagasamy Soumittra) -- 33. Tools of Genetic Eye Research and Need for Clinical Research Collaborations (Vanita Vanita and Umang Mathur) -- 34. Eye Genetics: The Road Ahead to Quality Standards (Sridhar Bammidi, Kaushal Sharma, Rahul Tyagi, Neel Kamal Sharma and Akshay Anand) -- 35. Genetic Counselling in Asia (Viney Gupta and Ken K. Nischal) -- 36. Epigenetic study in Asian Eye Diseases (Lai Wei, Xiao Hu and Xiafeng Wen) -- 37. Unique Asian Patients Population: An Opportunity for Drug Development (Rajkumar Patil, Cheng Ching Yu, Chui Ming Gemmy Cheung and Tien Yin Wong -- 38. A Perspective: How can gene therapeutics help address ophthalmic health issues in Asia? (Paul Kaufman). |
| Record Nr. | UNINA-9910254468603321 |
| Tokyo : , : Springer Japan : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Amerika, Land der unbegrenzten gendiagnostischen Möglichkeiten? : Die U.S.-amerikanische Rechtslage zur Anwendung der Gendiagnostik in der Humanmedizin / / von Claudia Henze
| Amerika, Land der unbegrenzten gendiagnostischen Möglichkeiten? : Die U.S.-amerikanische Rechtslage zur Anwendung der Gendiagnostik in der Humanmedizin / / von Claudia Henze |
| Autore | Henze Claudia |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (314 p.) |
| Disciplina | 618.3207543 |
| Collana | Veröffentlichungen des Instituts für Deutsches, Europäisches und Internationales Medizinrecht, Gesundheitsrecht und Bioethik der Universitäten Heidelberg und Mannheim |
| Soggetto topico |
Medical laws and legislation
Conflict of laws Human genetics Medical Law Private International Law, International & Foreign Law, Comparative Law Human Genetics |
| ISBN | 3-662-48087-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | ger |
| Nota di contenuto | Kapitel 1: Einleitung -- Kapitel 2: Einführung in die thematischen Grundlagen -- Kapitel 3: U.S.-rechtliche Regelungen mit Bedeutung für humanmedizinische Gentests auf Bundesebene -- Kapitel 4: U.S.-rechtliche Regelungen mit Bedeutung für humanmedizinische Gentests auf Staatenebene -- Kapitel 5: Der Diskussionsstand zum Status quo der U.S.-amerikanischen Rechtslage zu humanmedizinischen Gentests -- Kapitel 6: Aktuelle Entwicklungen und Bestrebungen zu einer bundeseinheitlichen Reform der U.S.-amerikanischen Rechtslage zu humanmedizinischen Gentests -- Kapitel 7: Hauptthesen und Schlussbetrachtung. |
| Record Nr. | UNINA-9910484972203321 |
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Henze Claudia
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| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Animal Models of Behavior Genetics / / edited by Jonathan C. Gewirtz, Yong-Kyu Kim
| Animal Models of Behavior Genetics / / edited by Jonathan C. Gewirtz, Yong-Kyu Kim |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (XVI, 389 p. 27 illus., 22 illus. in color.) |
| Disciplina |
611.01816
599.935 |
| Collana | Advances in Behavior Genetics |
| Soggetto topico |
Human genetics
Psychiatry Developmental psychology Neurosciences Human Genetics Developmental Psychology |
| ISBN | 1-4939-3777-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Overview of animal models in behavior genetics -- Neurogenetic analysis of mental deficiency in mice -- Learning and memory in dogs -- Cognition in rodents -- Kin recognition behavior in beetles -- Circadian rhythms in Drosophila -- Offensive behavior in mice - QTLs in emotionality in rodents -- Sexuality in primates -- Animal models for cognitive symptoms of schizophrenia -- Zebra fish model for endophenotype concepts -- Drosophila model for schizophrenia -- Critical reviews of animal models in behavior genetics. . |
| Record Nr. | UNINA-9910253897803321 |
| New York, NY : , : Springer New York : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Anticancer Genes / / edited by Stefan Grimm
| Anticancer Genes / / edited by Stefan Grimm |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | London : , : Springer London : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (288 p.) |
| Disciplina | 616.994042 |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Molecular biology
Cancer - Research Gene therapy Human genetics Pharmacology Molecular Medicine Cancer Research Gene Therapy Human Genetics Pharmacology/Toxicology |
| ISBN | 1-4471-6458-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introductory chapter -- Viral Anticancer Genes.- Signalling of apoptin -- Apoptin towards safe and efficient anticancer therapies -- Introduction of cancer-specific cell death by the adenovirus E4orf4 protein -- Tumor Suppressing Properties of Rodent Parvovirus NS1 Proteins and their Derivatives -- Cellular Anticancer Genes -- MDA-7/IL-24: Multifunctional Cancer Killing Cytokine -- Cancer-Selective Apoptosis by Tumor Suppressor Par-4 -- Tumor-necrosis-factor-related apoptosis-inducing ligand (TRAIL) -- SIRT6: a promising target for cancer prevention and therapy -- An Overview of Brevinin Superfamily: Structure, Function and Clinical Perspectives -- Isolation and Characterisation of the Anticancer Gene Organic Cation Transporter Like-3 (ORCTL3).- Anticancer Gene Therapy -- Introduction of Genes via Sonoporation and Electroporation -- Anticancer Gene Transfer for Cancer Gene Therapy. |
| Record Nr. | UNINA-9910298331603321 |
| London : , : Springer London : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Applied Computational Genomics / / edited by Yin Yao
| Applied Computational Genomics / / edited by Yin Yao |
| Edizione | [2nd ed. 2018.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (VII, 150 p. 14 illus., 13 illus. in color.) |
| Disciplina |
611.01816
599.935 |
| Collana | Translational Bioinformatics |
| Soggetto topico |
Human genetics
Bioinformatics Biotechnology Human Genetics |
| ISBN | 981-13-1071-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Exploring Polygenic Overlap Between ADHD and OCD -- Concepts of Genetic Epidemiology -- Rare Variants Analysis in Unrelated Individuals -- Whole Genome Association of Treatment Response in OCD -- QTL Mapping of Molecular Traits for Studies of Human Complex Diseases -- From Family Study to Population Study: A History of Genetic Mapping for Nasopharyngeal Carcinoma (NPC) -- Test for Nonlinear Dependence of Two Continuous Variables -- Analytical Approaches for Exome Sequence Data -- Machine Learning Approaches: Data Integration for Disease Prediction and Prognosis -- OCD Genomics and Future Looks. |
| Record Nr. | UNINA-9910349470503321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Applied RNA Bioscience / / edited by Seiji Masuda, Shingo Izawa
| Applied RNA Bioscience / / edited by Seiji Masuda, Shingo Izawa |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (286 pages) |
| Disciplina | 572.88 |
| Soggetto topico |
Nucleic acids
Human genetics Biotechnology Cytology Molecular biology Nucleic Acid Chemistry Human Genetics Cell Biology Molecular Medicine |
| ISBN | 981-10-8372-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910298439203321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Atlas of Genetic Diagnosis and Counseling [[electronic resource] /] / by Harold Chen
| Atlas of Genetic Diagnosis and Counseling [[electronic resource] /] / by Harold Chen |
| Autore | Chen Harold |
| Edizione | [2nd ed. 2012.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2012 |
| Descrizione fisica | 1 online resource (2472 illus., 2018 illus. in color. eReference.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Human genetics
Cytogenetics Molecular biology Pathology Human Genetics Molecular Medicine |
| ISBN | 1-4614-1037-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Acardia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Alpha thalassemia-mental retardation (ATR-X) syndrome -- Ambiguous genitalia -- Amniotic deformity, adhesions, mutilations (ADAM) syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Bannayan-Riley-Ruvalcaba syndrome -- Beckwith-Wiedemann syndrome -- Behcet disease -- Biotinidase deficiency -- Bladder exstrophy -- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) -- Body stalk anomaly -- Brachydactyly -- Branchial cleft cyst -- Calcinosis cutis -- Campomelic dysplasia -- Carpenter syndrome -- Cat-eye syndrome -- Celiac disease -- Cerebral palsy -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip/palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Clubfoot (talipes equinovarus) -- Collodion baby -- Congenital adrenal hyperplasia -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hemihyperplasia (congenital hemihypertrophy) -- Congenital hydrocephalus -- Congenital hypothyroidism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus-callosum agenesis/dysgenesis -- Craniometaphyseal dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cutis marmorata telangiectatica congenita -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(18p) syndrome -- Del(22q11.2) syndrome -- Del(Yq) syndrome -- Diabetic embryopathy -- Down syndrome -- Duncan syndrome (X-linked lymphoproliferative disease) -- Dyschondrosteosis/Langer mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- EEC syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Enchondromatosis -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) syndrome -- Facioscapulohumeral muscular dystrophy (FSH) -- Familial adenomatous polyposis syndrome -- Familial hyperlysinemia -- Familial Mediterranean fever -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fetal hydantoin syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Floppy infant -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon (whistling face) syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification -- Genitopatellar syndrome -- Giant congenital melanocytic nevi (giant congenital nevi) -- Glucose-6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II (Pompe) -- Goldenhar syndrome -- Gorlin (nevoid basal cell carcinoma) syndrome -- Greig cephalopolysyndactyly syndrome -- Hallermann-Streiff syndrome -- Harlequin fetus -- Hemophilia A -- Hereditary hearing loss -- Hereditary hemochromatosis -- Hereditary multiple exostosis -- Herlyn-Werner-Wunderlich syndrome -- Holoprosencephaly -- Holt-Oram syndrome -- Huntington disease -- Hydrolethalus syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Hypopituitarism -- I(1p),I(1q) syndrome -- Isodic(Yq) syndrome -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Joubert syndrome -- Kabuki syndrome -- Kassback-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia -- Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Loeys-Dietz syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) -- Menkes disease -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Mitochondrial Leber hereditary optic neuropathy -- Mobius syndrome -- Mowat-Wilson Disease -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler Polydystrophy) -- MPS I (Hurler syndrome) -- MPS II (Hunter syndrome) -- MPS III (Sanfilippo syndrome) -- MPS IV (Morquio syndrome) -- MPS VI (Maroteaux-Lamy syndrome) -- Multiple endocrine neoplasia Syndrome -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy -- Nail-Patella Syndrome (hereditary Osteo-onychodysplasia) -- Neonatal Herpes simplex infection -- Nephrogenic diabetes insipidus -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis 1 -- Neurofibromatosis 2 -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Oro-Facial-Digital Syndrome -- Osteogenesis imperfecta -- Osteopetrosis -- Osteopoikilosis -- Otopalatodigital spectrum disorders -- Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, AD form -- Polycystic kidney disease, AR form -- Popliteal pterygium syndrome -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embryopathy -- Rett syndrome -- Rickets -- Rigid spine syndrome -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Saethre-Chotzen syndrome -- Sagittal synostosis associated with chromosome abnormalities -- Schizencephaly -- Schmid metaphyseal chondrodystrophy -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly syndromes (SRPS) -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Optiz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius (TAR) syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly (Hecht syndrome) -- Trisomy 8 mosaicism (Warkany) syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- Urofacial (Ochoa) Syndrome -- VATER (VACTERL) association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Weill-Marchesani syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked agammaglobulinemia (Bruton type) -- X-linked ichthyosis -- XX Male -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female.-XYY syndrome. |
| Record Nr. | UNINA-9910483792303321 |
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Chen Harold
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| New York, NY : , : Springer New York : , : Imprint : Springer, , 2012 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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