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Results 1 - 10 of 10 for Clinical investigation
  1. GNAT2 gene 
    ... FL, Zografos L, Abdelhak S, El Matri L. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  2. ARMC5 gene 
    ... an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014 Jun;99(6): ...
    https://medlineplus.gov/genetics/gene/armc5 - Genetics
  3. DSPP gene 
    ... Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type ...
    https://medlineplus.gov/genetics/gene/dspp - Genetics
  4. CDC73 gene 
    ... V, De Caro R, Favia G, Palu G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. ...
    https://medlineplus.gov/genetics/gene/cdc73 - Genetics
  5. NAGS gene 
    ... L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on ... investigation by expression studies. Biochim Biophys Acta. 2005 Apr ...
    https://medlineplus.gov/genetics/gene/nags - Genetics
  6. FGFR1 gene 
    ... growth factor receptor 1 regulation: learning from the investigation of Kallmann ... a distinct clinical entity caused by constitutive activation of FGFR1. Acta ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  7. NF1 gene 
    ... division. Other potential functions for neurofibromin are under investigation. More than 1,000 NF1 mutations that cause ... 1002/humu.9018. Citation on PubMed Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child ...
    https://medlineplus.gov/genetics/gene/nf1 - Genetics
  8. PSEN1 gene 
    ... of sAPP and amyloid-β peptide are under investigation. Dozens of PSEN1 gene variants (also known as ... 2723. Citation on PubMed Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with ...
    https://medlineplus.gov/genetics/gene/psen1 - Genetics
  9. FH gene 
    ... M, Zierz S, Gellerich FN. Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab. 2006 Jun; ... de Keyzer Y, Toulhoat H, de Lonlay P. Clinical and biochemical heterogeneity associated with fumarase deficiency. Hum ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  10. ATP6V0A4 gene 
    ... V, Morin G, Jeunemaitre X, Blanchard A. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence ...
    https://medlineplus.gov/genetics/gene/atp6v0a4 - Genetics