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Results 1 - 10 of 58 for Cohort
  1. RP2 gene 
    ... of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am ... in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  2. NPHS1 gene 
    ... Group. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract. ... Group. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol ...
    https://medlineplus.gov/genetics/gene/nphs1 - Genetics
  3. SCN4A gene 
    ... Associated With Mutations in SCN4A in a Large Cohort of Italian Patients. Front Neurol. 2020 Jul 29; ... K. Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. Neuromuscul Disord. 2021 Sep; ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics
  4. MT-ATP6 gene 
    ... biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat. 2019 May; ... MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Ann Neurol. 2019 Aug;86(2):310- ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  5. SOX11 gene 
    ... N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  6. TSPYL1 gene 
    ... associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland. Mol Cell Probes. ...
    https://medlineplus.gov/genetics/gene/tspyl1 - Genetics
  7. SLC25A13 gene 
    ... and the mutation distribution in a large pediatric cohort in China. PLoS One. 2013 Sep 19;8( ...
    https://medlineplus.gov/genetics/gene/slc25a13 - Genetics
  8. ABHD5 gene 
    ... genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis. 2017 ...
    https://medlineplus.gov/genetics/gene/abhd5 - Genetics
  9. PLAGL1 gene 
    ... defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new ...
    https://medlineplus.gov/genetics/gene/plagl1 - Genetics
  10. DYSF gene 
    ... of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2): ...
    https://medlineplus.gov/genetics/gene/dysf - Genetics
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