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Matias Simons

Heidelberg University - University Hospital of Heidelberg

SCHOLARLY PAPERS

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Scholarly Papers (1)

1.

De Novo Variants in Rab11b Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Number of pages: 34 Posted: 28 Jun 2023
Leipzig University, University Bonn, Leipzig University, Université de Lyon, Université de Lyon, Yale University, Washington University in St. Louis - School of Medicine, University of Illinois College of Medicine, University of Illinois College of Medicine, Randall Children's Hospital, Randall Children's Hospital, Randall Children's Hospital, Institute of Clinical Genetics and Tumor Genetics, Leipzig University, Yale University, Université de Lyon, Université de Lyon, University of Utah, University of Utah, University of Utah, GeneDx, GeneDx, GeneDx, Kaiser Permanente, Department of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, Bonn University Hospital, Heidelberg University - University Hospital of Heidelberg, Heidelberg University - University Hospital of Heidelberg, Friedrich-Alexander-Universität Erlangen-Nürnberg - Division of Bioinformatics, Leipzig University and Leipzig University
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Abstract:

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RAB11B, neurodevelopmental disorder, GTPase, genotype-phenotype-correlation, RAB11A