Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 182 for large syndrome
  1. UBA1 gene 
    ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  2. KMT2D gene 
    ... analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat. 2014 Jul;35(7):841- ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  3. KDM6A gene 
    ... analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat. 2014 Jul;35(7):841- ...
    https://medlineplus.gov/genetics/gene/kdm6a - Genetics
  4. LARGE1 gene 
    ... Bokhoven H, Voit T. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 2007 Jul;121(6):685-90. ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  5. TIMM8A gene 
    ... symptoms of DDON syndrome.Some people with DDON syndrome have large DNA deletions that remove the entire TIMM8A gene ... by an increased susceptibility to infections. Individuals with large DNA deletions that include the ... Health Condition DDP ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  6. SOX11 gene 
    ... Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019 Dec;64(12): ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  7. MID1 gene 
    ... E, Meroni G. MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/mid1 - Genetics
  8. RNASEH2A gene 
    ... More About This Health Condition AGS4 aicardi-Goutieres syndrome 4 protein JUNB ribonuclease H2, large subunit ribonuclease H2, subunit A ribonuclease HI large ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  9. RAB23 gene 
    ... JC, Cormier-Daire V. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Am J Med Genet A. 2010 Apr;152A( ...
    https://medlineplus.gov/genetics/gene/rab23 - Genetics
  10. SIX1 gene 
    ... the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 ...
    https://medlineplus.gov/genetics/gene/six1 - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next