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Results 31 - 40 of 675 for p phenotype
  1. Multiminicore disease 
    ... HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. Ann Neurol. 2000 Nov; ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  2. Glutaric acidemia type I 
    ... E, Rokicki D, Ciara E, Rydzanicz M, Stawinski P, Ploski R, Tylki-Szymanska A. Mild phenotype of glutaric aciduria type 1 in polish patients - ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  3. TTN gene 
    ... B, Vihola A, Sarparanta J, Richard I, Hackman P. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 2005 Feb ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  4. Pendred syndrome 
    ... T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell ...
    https://medlineplus.gov/genetics/condition/pendred-syndrome - Genetics
  5. SLC26A4 gene 
    ... T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  6. 15q13.3 microdeletion 
    ... K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med. 2016 ...
    https://medlineplus.gov/genetics/condition/15q133-microdeletion - Genetics
  7. Wolfram syndrome 
    ... B, Mkadem SA, Chabrol B, Cano A, Labauge P, Paquis-Flucklinger V. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. Ann Neurol. 2011 Mar; ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  8. Jacobsen syndrome 
    ... Central Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  9. Adenine phosphoribosyltransferase deficiency 
    ... L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J ...
    https://medlineplus.gov/...nine-phosphoribosyltransferase-deficiency - Genetics
  10. Milroy disease 
    ... S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42(2):98- ...
    https://medlineplus.gov/genetics/condition/milroy-disease - Genetics
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