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American Journal of Medical Genetics|August 10, 1999
Methylenetetrahydrofolate reductase thermolabile variant and oral cleftsJ L Mills, P N Kirke, A M Molloy, et al.ACS Biomaterials Science & Engineering|February 24, 2025
Designing Positionally Stable Smooth Breast ImplantsTim Y Li, Sophia Salingaros, Hector F Salazar, et al.American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.Heredity|July 30, 2009
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutationsJ M Flanagan, G McMahon, S H Brendan Chia, et al.Journal of Inherited Metabolic Disease|October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiencyAndrew A M Morris, Viktor Kožich, Saikat Santra, et al.Human Mutation|March 26, 2003
Genetic diversity within the R408W phenylketonuria mutation lineages in EuropeOrna Tighe, Donncha Dunican, Charles O'Neill, et al.Pageof 6