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Beschreibung
The Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.
The Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.
Über den Autor
Anne Skomorowsky
Foreword by Randi J. Hagerman
Foreword by Randi J. Hagerman
Inhaltsverzeichnis
Foreword, by Randi Hagerman, MD
Introduction: The Carriers
1. One Damn Thing After Another
2. Fragile X Mutations: An Overview
3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next
4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND)
7. What Are Fragile Eggs? To Test or Not to Test
8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes
9. Outcomes
Notes
Acknowledgments
Index
Introduction: The Carriers
1. One Damn Thing After Another
2. Fragile X Mutations: An Overview
3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next
4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND)
7. What Are Fragile Eggs? To Test or Not to Test
8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes
9. Outcomes
Notes
Acknowledgments
Index
Details
Erscheinungsjahr: | 2022 |
---|---|
Fachbereich: | Andere Fachgebiete |
Genre: | Importe, Medizin |
Rubrik: | Wissenschaften |
Medium: | Buch |
Inhalt: | Einband - fest (Hardcover) |
ISBN-13: | 9780231197663 |
ISBN-10: | 0231197667 |
Sprache: | Englisch |
Einband: | Gebunden |
Autor: | Skomorowsky, Anne |
Hersteller: | Columbia University Press |
Verantwortliche Person für die EU: | Libri GmbH, Europaallee 1, D-36244 Bad Hersfeld, gpsr@libri.de |
Maße: | 226 x 151 x 27 mm |
Von/Mit: | Anne Skomorowsky |
Erscheinungsdatum: | 03.05.2022 |
Gewicht: | 0,512 kg |
Über den Autor
Anne Skomorowsky
Foreword by Randi J. Hagerman
Foreword by Randi J. Hagerman
Inhaltsverzeichnis
Foreword, by Randi Hagerman, MD
Introduction: The Carriers
1. One Damn Thing After Another
2. Fragile X Mutations: An Overview
3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next
4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND)
7. What Are Fragile Eggs? To Test or Not to Test
8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes
9. Outcomes
Notes
Acknowledgments
Index
Introduction: The Carriers
1. One Damn Thing After Another
2. Fragile X Mutations: An Overview
3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next
4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND)
7. What Are Fragile Eggs? To Test or Not to Test
8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes
9. Outcomes
Notes
Acknowledgments
Index
Details
Erscheinungsjahr: | 2022 |
---|---|
Fachbereich: | Andere Fachgebiete |
Genre: | Importe, Medizin |
Rubrik: | Wissenschaften |
Medium: | Buch |
Inhalt: | Einband - fest (Hardcover) |
ISBN-13: | 9780231197663 |
ISBN-10: | 0231197667 |
Sprache: | Englisch |
Einband: | Gebunden |
Autor: | Skomorowsky, Anne |
Hersteller: | Columbia University Press |
Verantwortliche Person für die EU: | Libri GmbH, Europaallee 1, D-36244 Bad Hersfeld, gpsr@libri.de |
Maße: | 226 x 151 x 27 mm |
Von/Mit: | Anne Skomorowsky |
Erscheinungsdatum: | 03.05.2022 |
Gewicht: | 0,512 kg |
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