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Results 61 - 70 of 675 for p phenotype
  1. Chromosome 17 
    ... S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636- ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  2. SPG11 gene 
    ... article on PubMed Central Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin ...
    https://medlineplus.gov/genetics/gene/spg11 - Genetics
  3. Spastic paraplegia type 11 
    ... article on PubMed Central Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  4. Alveolar capillary dysplasia with misalignment of pulmonary veins 
    ... Epub 2010 Mar 23. Citation on PubMed Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA. Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr. 2004 ...
    https://medlineplus.gov/...asia-with-misalignment-of-pulmonary-veins - Genetics
  5. PCSK9 gene 
    ... A, Junien C, Varret M, Boileau C, Benlian P, Rabes JP. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat. 2005 Nov; ...
    https://medlineplus.gov/genetics/gene/pcsk9 - Genetics
  6. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ... 30-4. Citation on PubMed Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  7. Spastic paraplegia type 7 
    ... T, Rao G, Sarrigiannis P, Shanmugarajah P, Zis P, Sharrack B, McDermott CJ, Shaw PJ, Hadjivassiliou M. Novel genotype-phenotype and MRI correlations in a large cohort of ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  8. MMADHC gene 
    ... PubMed Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  9. SAMHD1 gene 
    ... MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  10. CACNA1S gene 
    ... HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptacek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 ...
    https://medlineplus.gov/genetics/gene/cacna1s - Genetics
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