William Gahl

Affiliations: 
National Institutes of Health, Bethesda, MD 
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"William Gahl"
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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
Toro C, Hori RT, Malicdan MCV, et al. (2018) A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics
Li C, Brazill JM, Liu S, et al. (2018) Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature Communications. 9: 337
Toro C, Hori RT, Malicdan MCV, et al. (2018) A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics
Li C, Brazill JM, Liu S, et al. (2017) Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature Communications. 8: 1257
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