ELIZABETH ROEDER to DNA Mutational Analysis
This is a "connection" page, showing publications ELIZABETH ROEDER has written about DNA Mutational Analysis.
Connection Strength
0.073
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.028
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Score: 0.020
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003 Nov 11; 100(23):13424-9.
Score: 0.009
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Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2002 Aug; 25(4):299-314.
Score: 0.008
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Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet. 2000 Apr 24; 91(5):387-90.
Score: 0.007