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Results 1 - 10 of 10 for Clinical investigation
  1. Primary macronodular adrenal hyperplasia 
    ... an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014 Jun;99(6): ...
    https://medlineplus.gov/.../primary-macronodular-adrenal-hyperplasia - Genetics
  2. Mitochondrial trifunctional protein deficiency 
    ... Niida Y, Shigematsu Y, Iijima K, Yamaguchi S. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
  3. Familial isolated hyperparathyroidism 
    ... V, De Caro R, Favia G, Palu G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. ...
    https://medlineplus.gov/.../familial-isolated-hyperparathyroidism - Genetics
  4. Dentinogenesis imperfecta 
    ... 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/condition/dentinogenesis-imperfecta - Genetics
  5. Hyperparathyroidism-jaw tumor syndrome 
    ... V, De Caro R, Favia G, Palu G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. ...
    https://medlineplus.gov/.../hyperparathyroidism-jaw-tumor-syndrome - Genetics
  6. Apert syndrome 
    ... A, Gos M, Obersztyn E. Craniosynostosis as a clinical and diagnostic problem: ... a histological investigation. Orthod Craniofac Res. 2010 Feb;13(1):61- ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  7. N-acetylglutamate synthase deficiency 
    ... L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on ... investigation by expression studies. Biochim Biophys Acta. 2005 Apr ...
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency - Genetics
  8. Fumarase deficiency 
    ... M, Zierz S, Gellerich FN. Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab. 2006 Jun;88(2):146-52. doi: 10.1016/j.ymgme.2006.01.007. Epub 2006 Feb 28. Citation on PubMed Ezgu F, Krejci P, Wilcox WR. Mild clinical presentation and prolonged survival of a patient with ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
  9. Renal tubular acidosis with deafness 
    ... V, Morin G, Jeunemaitre X, Blanchard A. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence ...
    https://medlineplus.gov/.../renal-tubular-acidosis-with-deafness - Genetics
  10. Type 2 diabetes 
    ... and Insulin-related traits Consortium (MAGIC) Investigators; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Asian Genetic Epidemiology ...
    https://medlineplus.gov/genetics/condition/type-2-diabetes - Genetics