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Results 11 - 20 of 675 for p phenotype
  1. APC gene 
    ... 2741/1605. Citation on PubMed Jarvinen HJ, Peltomaki P. The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol ...
    https://medlineplus.gov/genetics/gene/apc - Genetics
  2. 16p11.2 duplication 
    ... SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  3. Familial adenomatous polyposis 
    ... onc.1206471. Citation on PubMed Jarvinen HJ, Peltomaki P. The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol ...
    https://medlineplus.gov/.../condition/familial-adenomatous-polyposis - Genetics
  4. KCNQ2 gene 
    ... Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012 ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  5. CASQ2 gene 
    ... G, Rizzi N, Napolitano C, Gyorke S, Volpe P, Priori SG. Clinical phenotype and functional characterization of CASQ2 mutations associated with ...
    https://medlineplus.gov/genetics/gene/casq2 - Genetics
  6. ENAM gene 
    ... K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011; ...
    https://medlineplus.gov/genetics/gene/enam - Genetics
  7. TREX1 gene 
    ... A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  8. Aicardi-Goutières syndrome 
    ... A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  9. RNASEH2B gene 
    ... A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/rnaseh2b - Genetics
  10. Spastic paraplegia type 31 
    ... T, Pericak-Vance M, Schols L, de Jonghe P, Zuchner S. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-31 - Genetics
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