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Results 81 - 90 of 675 for p phenotype
  1. ETFA gene 
    ... PubMed Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. ...
    https://medlineplus.gov/genetics/gene/etfa - Genetics
  2. ETFB gene 
    ... PubMed Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. ...
    https://medlineplus.gov/genetics/gene/etfb - Genetics
  3. BMPR1A gene 
    ... Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis ...
    https://medlineplus.gov/genetics/gene/bmpr1a - Genetics
  4. CDH23 gene 
    ... U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  5. RPL5 gene 
    ... PubMed or Free article on PubMed Central Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 ...
    https://medlineplus.gov/genetics/gene/rpl5 - Genetics
  6. Hypokalemic periodic paralysis 
    ... HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptacek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 ...
    https://medlineplus.gov/.../condition/hypokalemic-periodic-paralysis - Genetics
  7. Progressive familial heart block 
    ... J, Victor J, Nguyen JM, Schott JJ, Boisseau P, Escande D, Le Marec H. Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. ...
    https://medlineplus.gov/.../progressive-familial-heart-block - Genetics
  8. Centronuclear myopathy 
    ... Romero NB, Urtizberea JA, Garcia-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010 ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  9. Greig cephalopolysyndactyly syndrome 
    ... B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
  10. Birt-Hogg-Dubé syndrome 
    ... ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with ...
    https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome - Genetics
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