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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 14, 2015
Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiencyDoga Turkkahraman, Tulay Guran, Hannah Ivison, et al.
Genetic Testing and Molecular Biomarkers|June 26, 2010
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reactionVal Zvereff, Suxia Yao, Julia Ramsey, et al.
Pharmacogenomics|May 24, 2018
Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplificationRaymon Vijzelaar, Mariana R Botton, Lisette Stolk, et al.
Molecular Genetics and Metabolism|November 3, 2016
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher DiseaseGiulia Amico, Serena Grossi, Raymon Vijzelaar, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|May 18, 2010
Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenesCathy B Moelans, Roel A de Weger, Hanneke N Monsuur, et al.
Molecular Genetics and Metabolism|January 23, 2009
High frequency of large genomic deletions in the PCCA gene causing propionic acidemiaLourdes R Desviat, Rocío Sanchez-Alcudia, Belén Pérez, et al.
BMC Medical Genetics|April 30, 2013
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, et al.
Disease Markers|July 2, 2010
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart diseaseValentina Guida, Francesca Lepri, Raymon Vijzelaar, et al.
Genetic Testing and Molecular Biomarkers|January 23, 2016
Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe AmplificationRaymon Vijzelaar, Ellen van der Zwan, Adriaan van Gammeren, et al.
Cancer Chemotherapy and Pharmacology|February 5, 2021
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish populationJatta Saarenheimo, Nesna Wahid, Natalja Eigeliene, et al.
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