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John Walter

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Human Mutation|February 27, 2009

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional studyAlessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, et al.

Human Mutation|January 7, 2010

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype studyMarjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.

Journal of Inherited Metabolic Disease|February 19, 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.

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Search research articles

Showing results (31-40 of 33) with videos related to

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You have reached the last page of results.This site can display upto 33 results.

Human Mutation|February 27, 2009

Human Mutation|January 7, 2010

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype studyMarjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.

Journal of Inherited Metabolic Disease|February 19, 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.

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