LEADER 05108nam 2200721 450 001 9910821681903321 005 20200520144314.0 010 $a1-118-98154-5 010 $a1-118-98155-3 010 $a1-118-98153-7 035 $a(CKB)3710000000476472 035 $a(EBL)4187360 035 $a(SSID)ssj0001552818 035 $a(PQKBManifestationID)16171377 035 $a(PQKBTitleCode)TC0001552818 035 $a(PQKBWorkID)14812657 035 $a(PQKB)11045253 035 $a(PQKBManifestationID)16175959 035 $a(PQKB)21391728 035 $a(DLC) 2015034221 035 $a(Au-PeEL)EBL4187360 035 $a(CaPaEBR)ebr11128386 035 $a(CaONFJC)MIL831289 035 $a(PPN)220105111 035 $a(MiAaPQ)EBC4187360 035 $a(OCoLC)935249066 035 $a(EXLCZ)993710000000476472 100 $a20160105h20162016 uy 0 101 0 $aeng 135 $aur||||||||||| 181 $ctxt 182 $cc 183 $acr 200 00$aGenetic disorders and the fetus $ediagnosis, prevention, and treatment /$fedited by Aubrey Milunsky MB BCh, DSc, FRCP, FACMG, DCH, Jeff M. Milunsky MD, FACMG 205 $aSeventh edition. 210 1$aHoboken, New Jersey :$cWiley Blackwell,$d2016. 210 4$dİ2016 215 $a1 online resource (2122 p.) 300 $aDescription based upon print version of record. 311 $a1-118-98152-9 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aDedication; Title page; Copyright; Preface; Acknowledgements; List of Contributors; 1 Genetic Counseling: Preconception, Prenatal, and Perinatal; Incidence, prevalence and burden of genetic disorders and congenital malformations; The goal and purpose of prenatal diagnosis; Prerequisites for genetic counseling; Guiding principles for genetic counseling; Preconception genetic counseling; Genetic disorders that threaten maternal health; Maternal genetic disorders that may threaten fetal health and survival; Genetic disorders that pregnancy may aggravate; A history of infertility 327 $aParental carrier of a genetic disorder A family history of a genetic disorder; Consanguinity; Environmental exposures that threaten fetal health; Identification of preconception options; Genetic counseling as a prelude to prenatal diagnosis; Genetic counseling when the fetus is affected; Perinatal genetic counseling; References; 2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling; Introduction; Amniocentesis; Chorionic villus sampling; Fetal blood sampling; References; 3 Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects; Introduction; Amniotic fluid 327 $aAmniotic fluid cell culture Prenatal diagnosis of neural tube defects (NTDs); References; Additional References; 4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis; The incidence of chromosomal abnormalities detected by conventional cytogenetics; Indications for prenatal cytogenetic diagnosis; Interpretation issues: chromosome mosaicism and pseudomosaicism; Interpretation issues: chromosome rearrangements; Interpretation issues: chromosome polymorphisms, common inversions, and other structural variations 327 $aInterpretation issues: maternal cell contamination Factors affecting diagnostic success rate and accuracy; Technical standards for prenatal cytogenetics laboratories; Conclusion; Acknowledgments; References; 5 Prenatal Diagnosis of Sex Chromosome Abnormalities; Incidence; Patterns of inheritance; Prenatal diagnosis; Turner syndrome; Klinefelter syndrome; Triple X and poly-X syndromes; 47,XYY males; Structural abnormalities of the X chromosome; Structural abnormalities of the Y chromosome; Disorders of sex development; Ovotesticular disorders of sex development; Conclusion; References 327 $a6 Molecular Cytogenetics and Prenatal Diagnosis Microdeletions; Subtle/cryptic rearrangements; Identification of marker chromosomes; Structural rearrangements: duplications; Prenatal diagnosis: interphase analysis; Chorionic villus samples; Interphase studies: fetal cells in maternal blood; Interphase analysis: transcervical and uterine cavity samples; Interphase analysis: preimplantation genetic diagnosis; Conclusion; References; 7 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations; Introduction; Epidemiology; Clinical involvement in those with the full mutation 327 $aClinical phenotype in the premutation 606 $aPrenatal diagnosis 606 $aFetus$xDiseases$xGenetic aspects 606 $aFetus$xAbnormalities$xGenetic aspects 615 0$aPrenatal diagnosis. 615 0$aFetus$xDiseases$xGenetic aspects. 615 0$aFetus$xAbnormalities$xGenetic aspects. 676 $a618.3/2075 702 $aMilunsky$b Aubrey 702 $aMilunsky$b Jeff M. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910821681903321 996 $aGenetic disorders and the fetus$93916346 997 $aUNINA LEADER 05161nam 22005895 450 001 9911011346303321 005 20250614130241.0 010 $a3-031-88918-5 024 7 $a10.1007/978-3-031-88918-9 035 $a(MiAaPQ)EBC32156879 035 $a(Au-PeEL)EBL32156879 035 $a(CKB)39300895200041 035 $a(OCoLC)1524421879 035 $a(DE-He213)978-3-031-88918-9 035 $a(EXLCZ)9939300895200041 100 $a20250614d2025 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aDigitalisation of the Greening Supply Chain /$fedited by Adam Kolinski, Micha? Adamczak 205 $a1st ed. 2025. 210 1$aCham :$cSpringer Nature Switzerland :$cImprint: Springer,$d2025. 215 $a1 online resource (292 pages) 225 1 $aEcoProduction, Environmental Issues in Logistics and Manufacturing,$x2193-4622 311 08$a3-031-88917-7 327 $aSection 1: Digitizing information flows in the supply chain -- 1. Embracing Digital Innovation in Short Food Supply Chains through Alternative Food Networks -- 2. Use of artificial intelligence in interdisciplinary risk management in road transport -- 3. Reverse logistics in e-commerce - case study of Croatia -- 4. Building sustainably- understanding green supply chain management in Angola's construction small enterprises through grounded theory -- Section 2: Use of IT tools to support digitalisation and optimalisation in companies and supply chains -- 5. Iterative simulations supported by GIS-class tools based on supply chain oriented on liquid materials flows -- 6. Stochastic programming in supply chain optimalization -- 7. Impact of Digitalization on Ecological Sustainability in Warehousing ? Case Study of JD.com and SF Express Warehouses in Shanghai -- Section 3: Use of digital&automative technologies in greening supply chains -- 8. The role of green supply chain management in enterprise development -- 9. Logistics on loop: Innovative supply ?chains? of the circular economy -- 10. Greening of e-commerce logistics by digitalizing -- 11. Innovative Analysis of Surface Layer Parameters Using Nondestructive Testing for Sustainable Product Lifecycle Management. 330 $aThis book includes in-depth discussions on practical aspects of digitalisation of a supply chains and covers a vary array of actionable digitisation tools. The academic literature points to a serious lack of precision in the scope that the digitalisation of business processes should address. Studies on the digitalisation of businesses have pointed to the fragmented nature of their coverage and the lack of a comprehensive approach to the research conducted in this area. Digital transformation is described in academic and specialist literature as the integration of digital technology into all areas of business, which in turn is causing fundamental changes in the way a company delivers its services and business activities, cultural changes and a change from traditional business processes to new, innovative practices and solutions that are having an impact on the greening supply chains. It is important to note that digital transformation involves the introduction of innovation and new business models, incorporating the computerisation of resources, supply chain visibility and increasing the use of technology to improve the experience of employees, customers, suppliers, partners and supply chain stakeholders. Digitisation is a business trend that is becoming increasingly important. Books on this subject that have been published in recent years deal with the issue on a fragmented basis. It is not possible to find a publication that comprehensively presents opportunities for the digitisation of supply chains through the computerisation and standardisation of information flows, the integration of IT systems in supply chains and the application of modern technologies and innovations. Only the synergy of these three aspects allows for the full digitalisation of greening supply chains. The book is an excellent material for both theoreticians and practitioners. Theoreticians will find inspiring research results in a very narrow thematic scope, which is also dynamically developing. 410 0$aEcoProduction, Environmental Issues in Logistics and Manufacturing,$x2193-4622 606 $aSustainability 606 $aBusiness logistics 606 $aBusiness information services 606 $aSustainability 606 $aSupply Chain Management 606 $aBusiness Information Systems 615 0$aSustainability. 615 0$aBusiness logistics. 615 0$aBusiness information services. 615 14$aSustainability. 615 24$aSupply Chain Management. 615 24$aBusiness Information Systems. 676 $a304.2 700 $aKolinski$b Adam$01829604 701 $aAdamczak$b Micha?$01829605 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9911011346303321 996 $aDigitalisation of the Greening Supply Chain$94399047 997 $aUNINA