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Results 1 - 9 of 9 for Confirmation
  1. Familial paroxysmal nonkinesigenic dyskinesia 
    ... in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005 Apr;62( ...
    https://medlineplus.gov/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  2. Isolated Duane retraction syndrome 
    ... Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  3. Nager syndrome 
    ... Manouvrier-Hanu S, Holder-Espinasse M. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  4. Cantú syndrome 
    ... in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  5. Microphthalmia 
    ... Etchevers H, Malecaze F, Chassaing N, Calvas P. Confirmation of RAX gene involvement in human anophthalmia. Clin ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  6. CASK-related intellectual disability 
    ... in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  7. MED13L syndrome 
    ... Breur JM, Giltay JC, van Haaften G. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  8. Craniometaphyseal dysplasia 
    ... dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  9. Androgenetic alopecia 
    ... E, Bar-Natan M, Frydman M, Pras E. Confirmation of the association between male pattern baldness and ...
    https://medlineplus.gov/genetics/condition/androgenetic-alopecia - Genetics