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The Journal of Molecular Diagnostics : JMD|September 26, 2009
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disordersStavros Bashiardes, Ludmila Kousoulidou, Hans van Bokhoven, et al.
Stem Cell Research|August 4, 2024
Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9Neelam Fatima, Lieke Dillen, Marina P Hommersom, et al.
Neurogenetics|October 2, 2009
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardationGinevra Zanni, Hilde van Esch, Anissa Bensalem, et al.
Genes|January 21, 2022
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationMatthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-IRocio Moran, André B P Kuilenburg, John Duley, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 9, 2004
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)Ronald J E Pennings, Vedat Topsakal, Lisa Astuto, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3Arjan P M de Brouwer, Hendrikus P M Kunst, Alice Krebsova, et al.
BMC Cancer|July 21, 2009
Regulation of MYCN expression in human neuroblastoma cellsJoannes F M Jacobs, Hans van Bokhoven, Frank N van Leeuwen, et al.
European Journal of Medical Genetics|July 17, 2012
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomaliesMarjolein H Willemsen, Nicole de Leeuw, Arjan P M de Brouwer, et al.
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