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complete analysis
- ... van Heyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209. Citation on PubMed
- ... RA. Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype ... and epigenetic analysis of recurrent hydatidiform mole. Hum Mutat. 2009 May; ...
- ... of prostate cancer: a systematic review and meta-analysis. J Am Acad Dermatol. 2013 Jun;68(6):937-43. doi: 10.1016/j.jaad.2012.11.034. Epub 2013 Feb 8. Citation on PubMed Cousen P, Messenger A. Female pattern hair loss in complete androgen insensitivity syndrome. Br J Dermatol. 2010 May; ...
- ... H, Yin S. A systematic review and meta-analysis of the association between serotonergic gene polymorphisms and obstructive sleep apnea syndrome. PLoS One. 2014 Jan 27;9(1):e86460. doi: 10.1371/journal.pone.0086460. eCollection 2014. Citation on PubMed or Free article on PubMed Central
- ... space) that can result in the partial or complete collapse of a lung. This type of pneumothorax ... CG, Lin J, Qiao D, Yi L. Mutation analysis of the FLCN gene in Chinese patients with ...
- ... on PubMed Central Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res ...
- ... cause 50 to 70 percent of cases of complete achromatopsia, a form of the disorder characterized by ... gene. This mutation can be written as 1148delC.Complete achromatopsia occurs frequently in Pingelapese islanders, who live ...
- ... forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total ... binding globulin deficiency to avoid unnecessary treatments. The complete form of inherited thyroxine-binding globulin deficiency, TBG- ...
- ... mutations underlie about 25 percent of cases of complete achromatopsia, a form of the disorder characterized by ... color vision.The CNGA3 gene mutations that underlie complete achromatopsia affect the production or function of the ...
- ... to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). The prevalence of BPES ... cannot open fully. Mutations that lead to a complete loss of FOXL2 protein function often cause BPES ...