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Results 51 - 60 of 675 for p phenotype
  1. ANO5 gene 
    ... G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  2. GTF2IRD1 gene 
    ... M, Wu R, Senju A, Happe F, Turnpenny P, Sansbury F. Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients. Front Psychol. 2012 ...
    https://medlineplus.gov/genetics/gene/gtf2ird1 - Genetics
  3. UROS gene 
    ... C, Mascaro JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C. Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria. ...
    https://medlineplus.gov/genetics/gene/uros - Genetics
  4. Pyruvate kinase deficiency 
    ... Citation on PubMed Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007 Jul;21(4):217- ...
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency - Genetics
  5. PKLR gene 
    ... Citation on PubMed Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007 Jul;21(4):217- ...
    https://medlineplus.gov/genetics/gene/pklr - Genetics
  6. Autosomal recessive primary microcephaly 
    ... K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology. ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  7. Legius syndrome 
    ... J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009 Jul;46(7):425- ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
  8. Dystonia 6 
    ... E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012 Sep 1; ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  9. THAP1 gene 
    ... E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012 Sep 1; ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  10. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
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