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Results 1 - 10 of 332 for dms
  1. DMPK gene 
    ... are called premutations. More About This Health Condition DM protein kinase DM-kinase DM-PK DM1 Dm15 DM1PK DMK DMPK_HUMAN dystrophia ...
    https://medlineplus.gov/genetics/gene/dmpk - Genetics
  2. SIX5 gene 
    ... urinary tract More About This Health Condition BOR2 DM locus-associated homeodomain protein DMAHP dystrophia myotonica-associated ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics
  3. Epidermolysis bullosa simplex 
    Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters ...
    https://medlineplus.gov/.../condition/epidermolysis-bullosa-simplex - Genetics
  4. 22q11.2 deletion syndrome 
    ... 09297040590911185. Citation on PubMed Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, ... M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS. Autism spectrum disorders and symptoms in ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  5. Glutaric acidemia type I 
    ... I; GA1 PubMed Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric acidemia ... CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  6. ACTA2 gene 
    ... C, Buja LM, Raman CS, Shete SS, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) lead ... s11883-012-0241-4. Citation on PubMed Milewicz DM, Carlson AA, Regalado ES. Genetic testing in aortic ...
    https://medlineplus.gov/genetics/gene/acta2 - Genetics
  7. IL23R gene 
    ... on PubMed Central Kannan AK, Su Z, Gauvin DM, Paulsboe SE, Duggan R, Lasko LM, Honore P, ... SP, Chao CC, Sathe M, Grein J, Gorman DM, Bowman EP, McClanahan TK, Yearley JH, Eberl G, ...
    https://medlineplus.gov/genetics/gene/il23r - Genetics
  8. Familial thoracic aortic aneurysm and dissection 
    ... A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending ... Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  9. MT-TL1 gene 
    ... Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. Molecular neuropathology of MELAS: level of heteroplasmy in ... PubMed Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  10. CHARGE syndrome 
    ... Central Hale CL, Niederriter AN, Green GE, Martin DM. Atypical phenotypes associated with pathogenic CHD7 variants and ... Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. CHD7 Disorder. 2006 Oct 2 [updated 2022 Sep ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
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