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Results 1 - 10 of 675 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. 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
  9. OPA1 gene 
    ... MA, Verny C, Procaccio V, Lenaers G, Reynier P. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol. 2009 ... Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, ... and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  10. COL2A1 gene 
    ... Epub 2007 Aug 29. Citation on PubMed Kannu P, Bateman J, Savarirayan R. Clinical phenotypes associated with type II collagen mutations. J Paediatr ... DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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