Publications by authors named "J Beuten"

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Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Margarita L Martinez-Fierro, Griselda A Cabral-Pacheco, Idalia Garza-Veloz, Jesus Acuña-Quiñones, Laura E Martinez-de-Villarreal, Joke Beuten

Genes (Basel)· May 2021

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Phenotypic expansion in - a common cause of intellectual disability in females.
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, Joke Beuten

Ann Clin Transl Neurol· October 2018

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Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Joke Beuten

Am J Med Genet A· October 2017

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Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.
Philip M Boone, Yiu Man Chan, Jill V Hunter, Louis E Pottkotter, Nelson A Davino, Joke Beuten

Am J Med Genet A· November 2016

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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Karin Weiss, Paulien A Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Joke Beuten

Am J Hum Genet· October 2016

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