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Results 1 - 10 of 79 for Cohort
  1. 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
  2. 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
  3. 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
  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. 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
  6. 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
  7. VEXAS syndrome 
    ... Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis. Arthritis Rheumatol. 2022 ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  8. Neuropathy, ataxia, and retinitis pigmentosa 
    ... MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Ann Neurol. 2019 Aug;86(2):310- ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  9. GLUT1 deficiency syndrome 
    ... onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019 Aug 1;142(8):2303-2318. ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  10. Pyruvate kinase deficiency 
    ... pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. Am J Hematol. ...
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency - Genetics
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