QR Kod

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Abstract Background Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaf...

Ful tanımlama

Kaydedildi:
Asıl Yazarlar: Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMC 2018-01-01
Seri Bilgileri:Orphanet Journal of Rare Diseases
Konular:
next generation sequencing
panel diagnostics
consanguineous
carrier screening
autosomal recessive
Online Erişim:http://link.springer.com/article/10.1186/s13023-018-0763-0
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller