- Afhalen na 1 uur in een winkel met voorraad
- In januari gratis thuislevering in België
- Ruim aanbod met 7 miljoen producten
- Afhalen na 1 uur in een winkel met voorraad
- In januari gratis thuislevering in België
- Ruim aanbod met 7 miljoen producten
Atlas of X-Linked Intellectual Disability Syndromes
Charles E Schwartz, Roger E Stevenson, Tao Wang
Hardcover | Engels
€ 451,45
+ 902 punten
Omschrijving
Atlas of X-Linked Intellectual Disability Syndromes, 3rd Edition is a comprehensive reference for clinicians, laboratory geneticists, and researchers working to diagnose and understand X-linked intellectual disability (XLID). This updated edition presents a concise yet thorough overview of all known XLID syndromes, incorporating the latest clinical findings and gene discoveries.
Each syndrome entry includes hallmark somatic features, developmental and neurological characteristics, patterns of female expression, and the causative gene if known. A differential diagnosis matrix that follows each entry helps narrow diagnostic possibilities and guides targeted genetic testing. Appendices group syndromes by shared clinical features, offering a practical tool for comparison.
New content in this edition addresses duplications within the X chromosome involving XLID genes, XLID-associated Congenital Disorders of Glycosylation, skewed X-inactivation in female carriers, and genes that escape inactivation. The XLID Syndrome Atlas remains an essential tool for navigating the evolving genetics of intellectual disability.
Each syndrome entry includes hallmark somatic features, developmental and neurological characteristics, patterns of female expression, and the causative gene if known. A differential diagnosis matrix that follows each entry helps narrow diagnostic possibilities and guides targeted genetic testing. Appendices group syndromes by shared clinical features, offering a practical tool for comparison.
New content in this edition addresses duplications within the X chromosome involving XLID genes, XLID-associated Congenital Disorders of Glycosylation, skewed X-inactivation in female carriers, and genes that escape inactivation. The XLID Syndrome Atlas remains an essential tool for navigating the evolving genetics of intellectual disability.
Specificaties
Betrokkenen
- Auteur(s):
- Uitgeverij:
Inhoud
- Aantal bladzijden:
- 520
- Taal:
- Engels
Eigenschappen
- Productcode (EAN):
- 9780197809020
- Verschijningsdatum:
- 17/04/2026
- Uitvoering:
- Hardcover
- Formaat:
- Genaaid
- Afmetingen:
- 222 mm x 285 mm
- Gewicht:
- 1347 g
Alleen bij Standaard Boekhandel
+ 902 punten op je klantenkaart van Standaard Boekhandel
Cadeau
AANGERADEN
Beoordelingen
We publiceren alleen reviews die voldoen aan de voorwaarden voor reviews. Bekijk onze voorwaarden voor reviews.