Kristen Deak to Genetic Predisposition to Disease
This is a "connection" page, showing publications Kristen Deak has written about Genetic Predisposition to Disease.
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Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007 Feb 20; 68(8):578-82.
Score: 0.158
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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Hum Mutat. 2020 03; 41(3):655-667.
Score: 0.096
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
Score: 0.087
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Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Res A Clin Mol Teratol. 2005 Nov; 73(11):868-75.
Score: 0.036
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Pulmonary Granular Cell Tumors: A Study of 4 Cases Including a Malignant Phenotype. Am J Surg Pathol. 2019 10; 43(10):1397-1402.
Score: 0.024
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Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 2008 Nov 25; 71(22):1764-9.
Score: 0.011