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Results 1 - 10 of 41 for "Cohort," birth
  1. Sturge-Weber syndrome 
    ... Weber syndrome: a systematic review and Dutch multicentre cohort. Acta Ophthalmol. 2016 Nov;94(7):638-645. ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
  2. Glanzmann thrombasthenia 
    ... ITGA2B and ITGB3 Genes in a Large International Cohort. Hum Mutat. 2015 May;36(5):548-61. ...
    https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia - Genetics
  3. Supravalvular aortic stenosis 
    ... seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. Klinefelter syndrome 
    ... and mortality in men with Klinefelter syndrome: a cohort study. J Natl Cancer Inst. 2005 Aug 17; ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  9. Rigid spine muscular dystrophy 
    ... SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011 Jun 14;76(24): ...
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  10. Barth syndrome 
    ... J. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis. ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
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