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Results 1 - 10 of 28 for Nomenclature
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Dilated cardiomyopathy with ataxia syndrome 
    ... methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov;36(6): ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  8. Lamellar ichthyosis 
    ... P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  9. Dyserythropoietic anemia and thrombocytopenia 
    ... de-Oliveira MS. GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature. Hum Mutat. ...
    https://medlineplus.gov/...rythropoietic-anemia-and-thrombocytopenia - Genetics
  10. CLN10 disease 
    ... on PubMed Central Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
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