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Biblioteca

MARC Lista (tabellare)
Atlas of genetic diagnosis and counseling / / Harold Chen
Atlas of genetic diagnosis and counseling / / Harold Chen
Autore Chen Harold
Pubbl/distr/stampa New York : , : Springer New York : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (LX, 2224 p. 2472 illus., 2018 illus. in color.)
Disciplina 611.01816
599.935
Soggetto topico Genetic counseling
Genetic disorders - Diagnosis
Scientific atlases
ISBN 1-4614-6430-7
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-9910349295903321
Chen Harold  
New York : , : Springer New York : , : Imprint : Springer, , 2020
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Challenges and opportunities in using residual newborn screening samples for translational research [[electronic resource] ] : workshop summary / / Steve Olson and Adam C. Berger, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health, Board on Health Sciences Policy, Institute of Medicine of the National Academies
Challenges and opportunities in using residual newborn screening samples for translational research [[electronic resource] ] : workshop summary / / Steve Olson and Adam C. Berger, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health, Board on Health Sciences Policy, Institute of Medicine of the National Academies
Pubbl/distr/stampa Washington, D.C., : National Academies Press, 2010
Descrizione fisica 1 online resource (85 p.)
Disciplina 618.9
Altri autori (Persone) OlsonSteve <1956->
BergerAdam C
Soggetto topico Genetic disorders - Diagnosis
Newborn infants - Diseases - Diagnosis
Soggetto genere / forma Electronic books.
ISBN 1-282-91713-7
9786612917134
0-309-15955-5
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto ""Front Matter""; ""Reviewers""; ""Acknowledgments""; ""Contents""; ""Abbreviations and Acronyms""; ""1 Introduction""; ""2 Newborn Screening as a Public Health Program""; ""3 Uses of Residual Newborn Screening Samples in Research""; ""4 Concerns About the Use of Residual Newborn Screening Samples""; ""5 Review and Consent in the Use of Residual Newborn Screening Samples""; ""6 Parental and Public Education""; ""7 Workshop Overview and Wrap-Up""; ""References""; ""Appendix A: Workshop Agenda""; ""Appendix B: Speaker Biographical Sketches""
Record Nr. UNINA-9910465665703321
Washington, D.C., : National Academies Press, 2010
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Challenges and opportunities in using residual newborn screening samples for translational research [[electronic resource] ] : workshop summary / / Steve Olson and Adam C. Berger, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health, Board on Health Sciences Policy, Institute of Medicine of the National Academies
Challenges and opportunities in using residual newborn screening samples for translational research [[electronic resource] ] : workshop summary / / Steve Olson and Adam C. Berger, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health, Board on Health Sciences Policy, Institute of Medicine of the National Academies
Pubbl/distr/stampa Washington, D.C., : National Academies Press, 2010
Descrizione fisica 1 online resource (85 p.)
Disciplina 618.9
Altri autori (Persone) OlsonSteve <1956->
BergerAdam C
Soggetto topico Genetic disorders - Diagnosis
Newborn infants - Diseases - Diagnosis
ISBN 0-309-17713-8
1-282-91713-7
9786612917134
0-309-15955-5
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto ""Front Matter""; ""Reviewers""; ""Acknowledgments""; ""Contents""; ""Abbreviations and Acronyms""; ""1 Introduction""; ""2 Newborn Screening as a Public Health Program""; ""3 Uses of Residual Newborn Screening Samples in Research""; ""4 Concerns About the Use of Residual Newborn Screening Samples""; ""5 Review and Consent in the Use of Residual Newborn Screening Samples""; ""6 Parental and Public Education""; ""7 Workshop Overview and Wrap-Up""; ""References""; ""Appendix A: Workshop Agenda""; ""Appendix B: Speaker Biographical Sketches""
Record Nr. UNINA-9910791776703321
Washington, D.C., : National Academies Press, 2010
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Challenges and opportunities in using residual newborn screening samples for translational research : workshop summary / / Steve Olson and Adam C. Berger, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health, Board on Health Sciences Policy, Institute of Medicine of the National Academies
Challenges and opportunities in using residual newborn screening samples for translational research : workshop summary / / Steve Olson and Adam C. Berger, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health, Board on Health Sciences Policy, Institute of Medicine of the National Academies
Edizione [1st ed.]
Pubbl/distr/stampa Washington, D.C., : National Academies Press, 2010
Descrizione fisica 1 online resource (85 p.)
Disciplina 618.9
Altri autori (Persone) OlsonSteve <1956->
BergerAdam C
Soggetto topico Genetic disorders - Diagnosis
Newborn infants - Diseases - Diagnosis
ISBN 0-309-17713-8
1-282-91713-7
9786612917134
0-309-15955-5
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto ""Front Matter""; ""Reviewers""; ""Acknowledgments""; ""Contents""; ""Abbreviations and Acronyms""; ""1 Introduction""; ""2 Newborn Screening as a Public Health Program""; ""3 Uses of Residual Newborn Screening Samples in Research""; ""4 Concerns About the Use of Residual Newborn Screening Samples""; ""5 Review and Consent in the Use of Residual Newborn Screening Samples""; ""6 Parental and Public Education""; ""7 Workshop Overview and Wrap-Up""; ""References""; ""Appendix A: Workshop Agenda""; ""Appendix B: Speaker Biographical Sketches""
Record Nr. UNINA-9910969399803321
Washington, D.C., : National Academies Press, 2010
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Community genetics
Community genetics
Pubbl/distr/stampa Basel ; ; New York, : Karger, ©1998-
Descrizione fisica 1 online resource
Soggetto topico Medical genetics
Genetic disorders - Diagnosis
Public health
Health education
Community health services
Epidemiology
Community Health Services
Genetic Testing
Genetics, Medical
Health Education
Primary Health Care
Gesundheitsfürsorge
Humangenetik
Soziobiologie
Soggetto genere / forma Periodical
Periodicals.
Zeitschrift
ISSN 1422-2833
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Record Nr. UNINA-9910901765903321
Basel ; ; New York, : Karger, ©1998-
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Genetics in practice [[electronic resource] ] : a clinical approach for healthcare practitioners / / Jo Haydon
Genetics in practice [[electronic resource] ] : a clinical approach for healthcare practitioners / / Jo Haydon
Autore Haydon Jo
Pubbl/distr/stampa Chichester, England ; ; Hoboken, NJ, : Wiley, c2007
Descrizione fisica 1 online resource (292 p.)
Disciplina 616/.042
Soggetto topico Medical genetics
Genetic disorders - Diagnosis
Genetic counseling
Nursing
ISBN 0-470-98825-8
1-281-13541-0
9786611135416
0-470-69772-5
0-470-72525-7
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto The scientific and clinical discoveries that are used to provide current patient care / Peter Farndon -- The family history / Jo Haydon -- Basic biology / Tessa Webb and Jo Haydon -- Laboratory techniques / Eileen Roberts and Sarah Warburton -- Risk perception and options available / Jo Haydon -- Chromosome disorders / Jo Haydon -- Autosomal dominant disorders : 50% risk to offspring / Jo Haydon -- Autosomal recessive disorders : unaffected parents with 25% risk to offspring / Jo Haydon -- X-linked recessive disorders : carrier mothers, affected sons / Jo Haydon -- Multifactorial inheritance : interaction of genes and environment / Jo Haydon -- Mitochondrial disorders : inherited from mother by males and females / Jo Haydon -- Cancer genetics / Lucy Burgess -- Ethnicity / Jo Haydon -- Ethical issues / Amanda Barry -- Professional development / Jo Haydon and Amanda Barry -- Here and now: integrating current possibilities into patient care / Peter Farndon.
Record Nr. UNINA-9910145430703321
Haydon Jo  
Chichester, England ; ; Hoboken, NJ, : Wiley, c2007
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Genetics in practice : a clinical approach for healthcare practitioners / / Jo Haydon
Genetics in practice : a clinical approach for healthcare practitioners / / Jo Haydon
Autore Haydon Jo
Edizione [1st ed.]
Pubbl/distr/stampa Chichester, England ; ; Hoboken, NJ, : Wiley, c2007
Descrizione fisica 1 online resource (292 p.)
Disciplina 616/.042
Soggetto topico Medical genetics
Genetic disorders - Diagnosis
Genetic counseling
Nursing
ISBN 9786611135416
9780470988251
0470988258
9781281135414
1281135410
9780470697726
0470697725
9780470725252
0470725257
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto The scientific and clinical discoveries that are used to provide current patient care / Peter Farndon -- The family history / Jo Haydon -- Basic biology / Tessa Webb and Jo Haydon -- Laboratory techniques / Eileen Roberts and Sarah Warburton -- Risk perception and options available / Jo Haydon -- Chromosome disorders / Jo Haydon -- Autosomal dominant disorders : 50% risk to offspring / Jo Haydon -- Autosomal recessive disorders : unaffected parents with 25% risk to offspring / Jo Haydon -- X-linked recessive disorders : carrier mothers, affected sons / Jo Haydon -- Multifactorial inheritance : interaction of genes and environment / Jo Haydon -- Mitochondrial disorders : inherited from mother by males and females / Jo Haydon -- Cancer genetics / Lucy Burgess -- Ethnicity / Jo Haydon -- Ethical issues / Amanda Barry -- Professional development / Jo Haydon and Amanda Barry -- Here and now: integrating current possibilities into patient care / Peter Farndon.
Record Nr. UNINA-9910813610903321
Haydon Jo  
Chichester, England ; ; Hoboken, NJ, : Wiley, c2007
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Handbook of physical measurements / / Karen W. Gripp [and three others]
Handbook of physical measurements / / Karen W. Gripp [and three others]
Edizione [Third edition.]
Pubbl/distr/stampa New York, New York : , : Oxford University Press, , [2013]
Descrizione fisica 1 online resource (vi, 582 pages) : illustrations
Disciplina 573.6
Altri autori (Persone) GrippKaren W
Soggetto topico Anthropometry
Genetic disorders - Diagnosis
Growth disorders - Diagnosis
Soggetto genere / forma Electronic books.
ISBN 0-19-935310-7
0-19-998979-6
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Measurement -- Proportional growth and normal variants -- Height and length -- Weight -- Head circumference (occipitofrontal circumference, OFC) -- Craniofacies -- Limbs -- Chest and trunk -- Genitalia -- Skin and hair -- Dermatoglyphics and trichoglyphics -- Use of radiographs for measurement -- Developmental data -- Prenatal ultrasound measurements -- Postmortem organ weights -- Measurements for specific syndromes.
Record Nr. UNINA-9910452552503321
New York, New York : , : Oxford University Press, , [2013]
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Handbook of physical measurements / / Karen W. Gripp [et al.]
Handbook of physical measurements / / Karen W. Gripp [et al.]
Edizione [Third edition.]
Pubbl/distr/stampa New York : , : Oxford University Press, , [2013]
Descrizione fisica 1 online resource (vi, 582 pages) : illustrations
Disciplina 573.6
Altri autori (Persone) GrippKaren W
Soggetto topico Anthropometry
Genetic disorders - Diagnosis
Growth disorders - Diagnosis
ISBN 0-19-935310-7
0-19-998979-6
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Measurement -- Proportional growth and normal variants -- Height and length -- Weight -- Head circumference (occipitofrontal circumference, OFC) -- Craniofacies -- Limbs -- Chest and trunk -- Genitalia -- Skin and hair -- Dermatoglyphics and trichoglyphics -- Use of radiographs for measurement -- Developmental data -- Prenatal ultrasound measurements -- Postmortem organ weights -- Measurements for specific syndromes.
Record Nr. UNINA-9910790671103321
New York : , : Oxford University Press, , [2013]
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Handbook of physical measurements / / Karen W. Gripp [et al.]
Handbook of physical measurements / / Karen W. Gripp [et al.]
Edizione [Third edition.]
Pubbl/distr/stampa New York : , : Oxford University Press, , [2013]
Descrizione fisica 1 online resource (vi, 582 pages) : illustrations
Disciplina 573.6
Altri autori (Persone) GrippKaren W
Soggetto topico Anthropometry
Genetic disorders - Diagnosis
Growth disorders - Diagnosis
ISBN 0-19-935310-7
0-19-998979-6
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Measurement -- Proportional growth and normal variants -- Height and length -- Weight -- Head circumference (occipitofrontal circumference, OFC) -- Craniofacies -- Limbs -- Chest and trunk -- Genitalia -- Skin and hair -- Dermatoglyphics and trichoglyphics -- Use of radiographs for measurement -- Developmental data -- Prenatal ultrasound measurements -- Postmortem organ weights -- Measurements for specific syndromes.
Record Nr. UNINA-9910820100603321
New York : , : Oxford University Press, , [2013]
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui