000891111 000__ 03661cam\a2200493Ii\4500
000891111 001__ 891111
000891111 005__ 20230306150035.0
000891111 006__ m\\\\\o\\d\\\\\\\\
000891111 007__ cr\un\nnnunnun
000891111 008__ 190521s2019\\\\sz\\\\\\of\\\\000\0\eng\d
000891111 019__ $$a1103808636$$a1105180510
000891111 020__ $$a9783030043452$$q(electronic book)
000891111 020__ $$a3030043452$$q(electronic book)
000891111 020__ $$z9783030043445
000891111 0247_ $$a10.1007/978-3-030-04345-2$$2doi
000891111 0247_ $$a10.1007/978-3-030-04
000891111 035__ $$aSP(OCoLC)on1101969645
000891111 035__ $$aSP(OCoLC)1101969645$$z(OCoLC)1103808636$$z(OCoLC)1105180510
000891111 040__ $$aGW5XE$$beng$$erda$$epn$$cGW5XE$$dUPM$$dOCLCF$$dLQU$$dYDXIT
000891111 0411_ $$aeng$$hger
000891111 049__ $$aISEA
000891111 050_4 $$aRB155
000891111 08204 $$a616/.042$$223
000891111 1300_ $$aHandbuch für die Genetische Sprechstunde.$$lEnglish
000891111 24510 $$aGuide for genetic consultation /$$cBirgit Zirn, Karl Mehnert, eds.
000891111 264_1 $$aCham :$$bSpringer,$$c2019.
000891111 300__ $$a1 online resource (185 p.)
000891111 336__ $$atext$$btxt$$2rdacontent
000891111 337__ $$acomputer$$bc$$2rdamedia
000891111 338__ $$aonline resource$$bcr$$2rdacarrier
000891111 347__ $$atext file$$bPDF$$2rda
000891111 5050_ $$aPart I Basics: Chromosomes, genes, proteins -- chromosome analysis -- FISH -- Array CGH -- Gene Analysis -- Sequencing: Sanger and NGS -- Part II Cytogenetics: Female Chromosome Set (46, XX) -- Male Chromosome Set (46, XY) -- Germ Cell Formation, Fertilization, Non-Disjunction -- Trisomy 21 (Down syndrome) -- Trisomy 13/18 -- Klinefelter Syndrome -- Turner Syndrome -- Triple X Syndrome -- Triploidy -- Reciprocal Translocation -- Robertson Translocation -- Part III Prenatal Diagnosis: Basis Risk -- Maternal Age Risk -- Chorionic Villus Sampling (CVS) -- Amniocentesis (AC) -- Non-Invasive Prenatal Test (NIPT) -- Chromosome Disorders: Pregnancy And Childbirth -- Part IV Heredities: Autosomal Dominant Inheritance -- Autosomal Recessive Inheritance -- X-Linked Inheritance -- Mitochondrial Inheritance -- Germ Cell Mosaic -- Part V Fertility: Repeated Miscarriages -- Pregnancy: Ovulation To Implantation -- IVF and ICSI -- Polar Body And Pre-Implantation Diagnostics -- Relatives -- Part Vi Cancers: How Does Cancer Develop? -- Colon Cancer -- Breast And Ovarian Cancer -- Part VII Frequent Questions: Developmental Disorder -- Fragile X Syndrome -- Prader-Willi Syndrome 40 Angelman Syndrome -- Noonan Syndrome -- Microdeletion Syndrome 22q11 -- Neuroflbromatose -- Marfan Syndrome 45 Cystic Fibrosis -- Metabolic Disorders -- Myotonic Dystrophy Type 1 -- Huntington's Chorus -- Hemophilia -- Thrombophilia.
000891111 506__ $$aAccess limited to authorized users.
000891111 520__ $$aSupported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students. .
000891111 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed May 21, 2019).
000891111 650_0 $$aMedical genetics$$vHandbooks, manuals, etc.
000891111 650_0 $$aMedical consultation$$vHandbooks, manuals, etc.
000891111 7001_ $$aZirn, Birgit,$$eeditor.
000891111 7001_ $$aMehnert, Karl,$$eeditor.
000891111 77608 $$iPrint version:$$z9783030043445
000891111 85280 $$bebk$$hSpringerLink
000891111 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-030-04345-2$$zOnline Access$$91397441.1
000891111 909CO $$ooai:library.usi.edu:891111$$pGLOBAL_SET
000891111 980__ $$aEBOOK
000891111 980__ $$aBIB
000891111 982__ $$aEbook
000891111 983__ $$aOnline
000891111 994__ $$a92$$bISE