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Results 1 - 10 of 463 for Clinical study
  1. Fraser syndrome 
    ... Syndrome Collaboration Group; Hennekam RC. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  2. Nemaline myopathy 
    ... NG, Beggs AH, North KN. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. Citation on PubMed ... JX, Mao YL. Clinical and pathological features of patients with nemaline myopathy. ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  3. Cytochrome P450 oxidoreductase deficiency 
    ... abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. Citation on PubMed ... with multiple clinical manifestations. Sci Signal. 2012 Oct 23;5(247): ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  4. POR gene 
    ... abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  5. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
    ... Mumm S, Whyte MP, Smith CD, Watts GD. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A. 2008 Mar ... A, Kimonis VE. Clinical delineation and localization to chromosome 9p13.3-p12 ...
    https://medlineplus.gov/...paget-disease-and-frontotemporal-dementia - Genetics
  6. Retinoblastoma 
    ... retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013 Apr;14(4):327-34. ...
    https://medlineplus.gov/genetics/condition/retinoblastoma - Genetics
  7. Infantile neuroaxonal dystrophy 
    ... Bao X, Zhang Y, Xiao J, Wu X. Clinical study and PLA2G6 mutation screening analysis in Chinese patients ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  8. Incontinentia pigmenti 
    ... Y, Fraitag S, de Prost Y, Bodemer C. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. ...
    https://medlineplus.gov/genetics/condition/incontinentia-pigmenti - Genetics
  9. Larsen syndrome 
    ... DH, Krakow D, Robertson SP. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. ...
    https://medlineplus.gov/genetics/condition/larsen-syndrome - Genetics
  10. Congenital leptin deficiency 
    ... Leptin: defining its role in humans by the clinical study of genetic disorders. Nutr Rev. 2002 Oct;60( ...
    https://medlineplus.gov/.../condition/congenital-leptin-deficiency - Genetics
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