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020			_a9783030043452
024	7		_a10.1007/978-3-030-04345-2 _2doi
040			_bspa _cES-MaUEC _dES-MaUEC
050		4	_aRG133.5 _b.Z57 2019 EB
100	1		_aZirn, Birgit. _eautor _4aut _4http://id.loc.gov/vocabulary/relators/aut
245	0	0	_aGuide for Genetic Consultation _cby Birgit Zirn, Karl Mehnert.
264		1	_aCham _bSpringer International Publishing : _bImprint: Springer _c2019.
300			_aV, 187 páginas 97 ilustraciones, 87 ilustraciones a color
336			_2rdacontent _aTexto (visual) _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF _2rda
490	0		_aMedicine (Springer-11650)
505	0		_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.
520	3		_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. .
988			_aPrimersemestre_2019_Medicine
653		0	_aReproductive Medicine.
653		0	_aHuman genetics.
653		0	_aObstetrics.
700	1		_aMehnert, Karl. _eautor _4aut _4http://id.loc.gov/vocabulary/relators/aut
710	2		_aSpringerLink (Online service) _9106937
776	0	8	_iPrinted edition: _z9783030043445
776	0	8	_iPrinted edition: _z9783030043469
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-04345-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
942			_2lcc _cLE
998			_db _feng _ggw _h0