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Results 1 - 10 of 140 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. 21-hydroxylase deficiency 
    ... Kuttenn F. Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal ... adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol. 2013 Sep;1(1): ...
    https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency - Genetics
  3. Primary ciliary dyskinesia 
    ... account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med ... disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007 ...
    https://medlineplus.gov/.../condition/primary-ciliary-dyskinesia - Genetics
  4. Warfarin resistance 
    ... dose in Brazilian patients with thrombosis: a prospective cohort study. Mol Diagn Ther. 2014 Dec;18(6): ... modulation of warfarin dosage? a study on a cohort of the Egyptian population. Mol Diagn Ther. 2014 ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
  5. Branchiootorenal/branchiootic syndrome 
    ... variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate ... EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls ...
    https://medlineplus.gov/.../branchiootorenal-branchiootic-syndrome - Genetics
  6. 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
  7. 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
  8. 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
  9. Spastic paraplegia type 7 
    ... paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. Neurology. 2019 Jun ... genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurol Genet. 2018 ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  10. Congenital nephrotic syndrome 
    ... 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/.../condition/congenital-nephrotic-syndrome - Genetics
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