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Results 101 - 110 of 675 for p phenotype
  1. Pallister-Hall 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/genetics/condition/pallister-hall-syndrome - Genetics
  2. RPS19 gene 
    ... Epub 2014 Sep 18. Citation on PubMed 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/rps19 - Genetics
  3. SLC37A4 gene 
    ... PubMed Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Genotype/phenotype correlation in glycogen storage disease type 1b: a ...
    https://medlineplus.gov/genetics/gene/slc37a4 - Genetics
  4. IVD gene 
    ... R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn ...
    https://medlineplus.gov/genetics/gene/ivd - Genetics
  5. Optic atrophy type 1 
    ... Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pages M, Villain M, Meunier I, Lenaers G, Hamel CP. Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction. J Neurol Sci. ...
    https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 - Genetics
  6. ABCB7 gene 
    ... I, Derosas M, Ingrassia R, Corrado M, Arosio P. RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. Blood. 2007 Apr 15; ...
    https://medlineplus.gov/genetics/gene/abcb7 - Genetics
  7. ALMS1 gene 
    ... G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat. 2007 Nov; ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
  8. SELENON gene 
    ... T, Estournet B, Richard P, Fardeau M, Guicheney P. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early- ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  9. PURA syndrome 
    ... Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  10. SETBP1 haploinsufficiency disorder 
    ... P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
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