An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Những quyển sách tương tự

• Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
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  Được phát hành: (2017)
• Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
  Bằng: Lango Allen, Hana, et al.
  Được phát hành: (2014)
• Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
  Bằng: Stitziel, Nathan O., et al.
  Được phát hành: (2013)
• Autosomal recessive polycystic kidney disease diagnosed in fetus
  Bằng: Thomas, Joseph, et al.
  Được phát hành: (2007)
• Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss
  Bằng: Bademci, Guney, et al.
  Được phát hành: (2014)