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Results 1 - 10 of 706 for p phenotype
  1. KBG syndrome 
    ... MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. ... A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van ... KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  2. Achondrogenesis 
    ... N, Makitie O, Nishimura G, Nordgren A, Conner P. The phenotype range of achondrogenesis 1A. Am J Med Genet ... SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and ... on PubMed Smits P, Bolton AD, Funari V, Hong M, Boyden ED, ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  3. Otopalatodigital syndrome type 2 
    ... B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Fetal phenotypes in otopalatodigital spectrum disorders. Clin Genet. 2016 Mar; ...
    https://medlineplus.gov/.../otopalatodigital-syndrome-type-2 - Genetics
  4. PRNP gene 
    ... F, Moore R, Walker R, Winnberg E, Svenningsson P. Genotype-phenotype analysis in inherited prion disease with eight octapeptide ...
    https://medlineplus.gov/genetics/gene/prnp - Genetics
  5. TRIP11 gene 
    ... N, Makitie O, Nishimura G, Nordgren A, Conner P. The phenotype range of achondrogenesis 1A. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  6. Allergic asthma 
    ... on PubMed Central Kiley J, Smith R, Noel P. Asthma phenotypes. Curr Opin Pulm Med. 2007 Jan;13(1): ...
    https://medlineplus.gov/genetics/condition/allergic-asthma - Genetics
  7. JUP gene 
    ... K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy ( ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
  8. ACAD8 gene 
    ... X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Phenotype, genotype and long-term prognosis of 40 Chinese ...
    https://medlineplus.gov/genetics/gene/acad8 - Genetics
  9. Isobutyryl-CoA dehydrogenase deficiency 
    ... X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Phenotype, genotype and long-term prognosis of 40 Chinese ...
    https://medlineplus.gov/.../isobutyryl-coa-dehydrogenase-deficiency - Genetics
  10. PPM-X syndrome 
    ... P, Destree A, Lederer D, Moortgat S. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation ...
    https://medlineplus.gov/genetics/condition/ppm-x-syndrome - Genetics
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