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Results 1 - 10 of 47 for Nomenclature
  1. How are genetic conditions and genes named?: MedlinePlus Genetics 
    ... form (e.g., Down syndrome ). The HUGO Gene Nomenclature Committee (HGNC) designates an official name and symbol ( ... to the HGNC's Guidelines for Human Gene Nomenclature . Learn how to cite this page
    https://medlineplus.gov/.../mutationsanddisorders/naming - Genetics
  2. MEGDEL syndrome 
    ... methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov;36(6): ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  3. TCOF1 gene 
    ... alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 2005 May;25(5):429-34. ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov;36(6): ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. Costeff syndrome 
    ... methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov;36(6): ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  6. COL1A2 gene 
    ... Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  7. COL1A1 gene 
    ... Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  8. Mucolipidosis II alpha/beta 
    ... VA. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A. 2008 Feb 15; ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  9. Mucolipidosis III alpha/beta 
    ... VA. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A. 2008 Feb 15; ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  10. Mucolipidosis III gamma 
    ... VA. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A. 2008 Feb 15; ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma - Genetics
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