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Plos One|July 25, 2019
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependentRaymon Vijzelaar, Reinier Snetselaar, Martijn Clausen, et al.
Pharmacogenomics|February 8, 2019
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detectionWanqiong Qiao, Suparna Martis, Geetu Mendiratta, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCREmily Spencer, Julia Davis, Fady Mikhail, et al.
Clinical Chemistry and Laboratory Medicine|January 15, 2013
A multiplex assay to rapidly exclude HLA-DQ2.5 and HLA-DQ8 expression in patients at risk for celiac diseaseEllen M van Beek, Elianne A Roelandse-Koop, Raymon Vijzelaar, et al.
The Journal of Clinical Endocrinology and Metabolism|March 23, 2016
Steroid Sulfatase Deficiency and Androgen Activation Before and After PubertyJan Idkowiak, Angela E Taylor, Sandra Subtil, et al.
Neurology. Genetics|June 25, 2021
<i>SMN1</i> Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral SclerosisJeroen W Bos, Ewout J N Groen, Renske I Wadman, et al.
Brain Communications|September 21, 2020
Intragenic and structural variation in the <i>SMN</i> locus and clinical variability in spinal muscular atrophyRenske I Wadman, Marc D Jansen, Marloes Stam, et al.
Human Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.
NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.
Human Genetics|August 31, 2010
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicityAndré B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
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