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Results 1 - 10 of 11 for Confirmation
  1. AR gene 
    ... E, Bar-Natan M, Frydman M, Pras E. Confirmation of the association between male pattern baldness and ...
    https://medlineplus.gov/genetics/gene/ar - Genetics
  2. BBS10 gene 
    ... of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  3. NCSTN gene 
    ... Yang HM, Yang S, Li RQ, Zhang XJ. Confirmation by exome sequencing of the pathogenic role of ...
    https://medlineplus.gov/genetics/gene/ncstn - Genetics
  4. PNKD gene 
    ... in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005 Apr;62( ...
    https://medlineplus.gov/genetics/gene/pnkd - Genetics
  5. MED13L gene 
    ... Breur JM, Giltay JC, van Haaften G. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  6. RUNX2 gene 
    ... hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant. ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  7. SF3B4 gene 
    ... Manouvrier-Hanu S, Holder-Espinasse M. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  8. ANO5 gene 
    ... in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  9. CASK gene 
    ... in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  10. CHN1 gene 
    ... Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement ...
    https://medlineplus.gov/genetics/gene/chn1 - Genetics
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