Limb anomalies in patients with CHARGE syndrome : An expansion of the phenotypeVAN DE LAAR, Ingrid; DOOIJES, Dennis; HOEFSLOOT, Lies et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 22, pp 2712-2715, issn 1552-4825, 4 p.Article

First locus for primary pulmonary vein stenosis maps to chromosome 2qVAN DE LAAR, Ingrid; WESSELS, Marja; DE KRIJGER, Ronald et al.European heart journal. 2009, Vol 30, Num 20, pp 2485-2492, issn 0195-668X, 8 p.Article

Somatic Mosaicism for the SALL1 Mutation p.Ser371X in Full-Blown Townes-Brocks Syndrome With Duane AnomalyVAN DEN AKKER, Peter C; VAN DE GRAAF, Raoul; DOOIJES, Dennis et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 4, pp 812-815, issn 1552-4825, 4 p.Article

Evidence for an oligogenic basis of amyotrophic lateral sclerosisBLITTERSWIJK, Marka Van; ES, Michael A. Van; DE BAKKER, Paul I. W et al.Human molecular genetics (Print). 2012, Vol 21, Num 17, pp 3776-3784, issn 0964-6906, 9 p.Article

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up StudyCOX, Moniek G. P. J; VAN DER ZWAAG, Paul A; DOOIJES, Dennis et al.Circulation (New York, N.Y.). 2011, Vol 123, Num 23, pp 2690-2700, issn 0009-7322, 11 p.Article

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy : Haploinsufficiency, Deranged Phosphorylation, and Cardiomyocyte DysfunctionVAN DIJK, Sabine J; DOOIJES, Dennis; VAN DER VELDEN, Jolanda et al.Circulation (New York, N.Y.). 2009, Vol 119, Num 11, pp 1473-1483, issn 0009-7322, 11 p.Article

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriersMICHEIS, Michelle; SOLIMAN, Osama I. I; PHEFFERKORN, Judith et al.European heart journal. 2009, Vol 30, Num 21, pp 2593-2598, issn 0195-668X, 6 p.Article

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and AdolescenceMARSMAN, Roos F; BARC, Julien; BEZZINA, Connie R et al.Journal of the American College of Cardiology. 2014, Vol 63, Num 3, pp 259-266, issn 0735-1097, 8 p.Article

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Diagnostic Task Force Criteria Impact of New Task Force CriteriaCOX, Moniek G. P. J; VAN DER SMAGT, Jasper J; JORDAENS, Luc et al.Circulation. Arrhythmia and electrophysiology. 2010, Vol 3, Num 2, pp 126-133, issn 1941-3149, 8 p.Article

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction CardiomyopathyHOEDEMAEKERS, Yvonne M; CALISKAN, Kadir; MAJOOR-KRAKAUER, Danielle F et al.Circulation. Cardiovascular genetics (Print). 2010, Vol 3, Num 3, pp 232-239, issn 1942-325X, 8 p.Article

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23BAKALKIN, Georgy; WATANABE, Hiroyuki; ZUBAREV, Roman A et al.American journal of human genetics. 2010, Vol 87, Num 5, pp 593-603, issn 0002-9297, 11 p.Article

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvementVAN BEVER, Yolande; GISCHLER, Saskia J; HOEVE, Hans L. J et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 426-429, issn 1769-7212, 4 p.Article

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315RVAN HERPEN, Esther; ROSSO, Sonia M; MAJOOR-KRAKAUER, Daniëlle et al.Annals of neurology. 2003, Vol 54, Num 5, pp 573-581, issn 0364-5134, 9 p.Article

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutationsELFFERICH, Peter; VERLEUN-MOOIJMAN, Marja C; VAN SWIETEN, John C et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 4, pp 263-271, issn 1364-6745, 9 p.Article

FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the NetherlandsGROEN, Ewout J. N; VAN ES, Michael A; PASTERKAMP, R. Jeroen et al.Archives of neurology (Chicago). 2010, Vol 67, Num 2, pp 224-230, issn 0003-9942, 7 p.Article

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?WESSELS, Marja W; KUCHINKA, Brian; CASEY, Brett et al.Journal of medical genetics. 2010, Vol 47, Num 5, pp 351-355, issn 0022-2593, 5 p.Article

A Duplication Including GATA4 Does Not Co-Segregate With Congenital Heart DefectsJOZIASSE, Irene C; VAN DER SMAGT, Jasper J; POOT, Martin et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 1062-1066, issn 1552-4825, 5 p.Article

Functional analysis of a novel androgen receptor mutation, Q902K, in an individual with partial androgen insensitivityUMAR, Arzu; BERREVOETS, Cor A; MAI VAN, N et al.The Journal of clinical endocrinology and metabolism. 2005, Vol 90, Num 1, pp 507-515, issn 0021-972X, 9 p.Article

Recombination hotspot in NF1 microdeletion patientsLOPEZ-CORREA, Catalina; DORSCHNER, Michael; FRYNS, Jean-Pierre et al.Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392, issn 0964-6906Article

Hexanucleotide repeat expansions in C90RF72 in the spectrum of motor neuron diseasesVAN RHEENEN, Wouter; VAN BLITTERSWIJK, Marka; RAAPHORST, Joost et al.Neurology. 2012, Vol 79, Num 9, pp 878-882, issn 0028-3878, 5 p.Article

Association of rare MSH6 variants with familial breast cancerWASIELEWSKI, Marijke; RIAZ, Muhammad; SCHUTTE, Mieke et al.Breast cancer research and treatment. 2010, Vol 123, Num 2, pp 315-320, issn 0167-6806, 6 p.Article

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndromeBOOGERD, Cornelis J. J; DOOIJES, Dennis; ILGUN, Aho et al.Cardiovascular research. 2010, Vol 88, Num 1, pp 130-139, issn 0008-6363, 10 p.Article

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pWESSELS, Marja W; DE GRAAF, Bianca M; WLADIMIROFF, Jury W et al.Human genetics. 2008, Vol 122, Num 6, pp 595-603, issn 0340-6717, 9 p.Article

Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy : linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathiesREYBROUCK, Tony; ECTOR, Hugo; DOOIJES, Dennis et al.European heart journal. 2007, Vol 28, Num 22, issn 0195-668X, 2697-2698, 2732-2737 [8 p.]Article

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's diseaseROSSO, Sonia M; VAN HERPEN, Esther; GOEDERT, Michel et al.Annals of neurology. 2002, Vol 51, Num 3, pp 373-376, issn 0364-5134Article