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Guide for genetic consultation

Zirn, Birgit.

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Guide for genetic consultation

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Guide for genetic consultation/ edited by Birgit Zirn, Karl Mehnert.
其他作者:	Zirn, Birgit.
出版者:	Cham :Springer International Publishing : : 2019.,
面頁冊數:	v, 187 p. :ill., digital ;21 cm.
內容註:	Part 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.
Contained By:	Springer eBooks
標題:	Medical genetics - Handbooks, manuals, etc. -
電子資源:	https://doi.org/10.1007/978-3-030-04345-2
ISBN:	9783030043452

Guide for genetic consultation
Handbuch fur die Genetische Sprechstunde.English

Guide for genetic consultation[electronic resource] /edited by Birgit Zirn, Karl Mehnert. - Cham :Springer International Publishing :2019. - v, 187 p. :ill., digital ;21 cm.

Part 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.

Supported 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.

ISBN: 9783030043452

Standard No.: 10.1007/978-3-030-04345-2doiSubjects--Topical Terms:

3409283
Medical genetics
--Handbooks, manuals, etc.

LC Class. No.: RB155

Dewey Class. No.: 616.042

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505 0 $a Part 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 $a Supported 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.
650 0 $a Medical genetics $v Handbooks, manuals, etc. $3 3409283
650 0 $a Medical consultation $v Handbooks, manuals, etc. $3 3409284
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650 2 4 $a Obstetrics/Perinatology/Midwifery. $3 3252304
650 2 4 $a Public Health. $3 624351
700 1 $a Zirn, Birgit. $3 3409281
700 1 $a Mehnert, Karl. $3 3409282
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