William Gahl

National Institutes of Health, Bethesda, MD 
"William Gahl"
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Tambe MA, Ng BG, Shimada S, et al. (2020) Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. Journal of Inherited Metabolic Disease
Davids M, Menezes M, Guo Y, et al. (2020) Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molecular Genetics and Metabolism
Ates KM, Wang T, Moreland T, et al. (2020) Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development. Disease Models & Mechanisms
Burke EA, Reichard KE, Wolfe LA, et al. (2020) A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A
Ferreira CR, Zein WM, Huryn LA, et al. (2020) Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Mashimo M, Bu X, Aoyama K, et al. (2019) PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. Jci Insight. 4
Ng BG, Sosicka P, Agadi S, et al. (2019) SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Human Mutation
Davids M, Kane MS, Wolfe LA, et al. (2018) Glycomics in rare diseases: from diagnosis to mechanism. Translational Research : the Journal of Laboratory and Clinical Medicine
Davids M, Markello T, Wolfe LA, et al. (2018) Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Human Mutation
Ferreira CR, Xia ZJ, Clément A, et al. (2018) A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics. 103: 553-567
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