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Results 1 - 10 of 434 for large syndrome
  1. VEXAS syndrome 
    ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  2. 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
  3. Kearns-Sayre syndrome 
    ... SYNDROME; KSS PubMed Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: ... and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum ... Epub 2008 Apr 15. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  4. Kabuki syndrome 
    ... 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/condition/kabuki-syndrome - Genetics
  5. 3q29 microdeletion syndrome 
    ... philtrum); a high bridge of the nose; and large ears. 3q29 microdeletion syndrome appears to be very rare. Based on a ...
    https://medlineplus.gov/.../condition/3q29-microdeletion-syndrome - Genetics
  6. 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
  7. Kuskokwim syndrome 
    ... their peers and they may have an abnormally large head (macrocephaly). Kuskokwim syndrome is extremely rare. It affects a small number ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics
  8. 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
  9. 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
  10. 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
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