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Publications by Hans van Bokhoven
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated With Mental Retardation
American Journal of Human Genetics
Genetics
A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients With X-Linked Disorders
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Genotype–phenotype Studies in Nail-Patella Syndrome Show That LMX1B Mutation Location Is Involved in the Risk of Developing Nephropathy
European Journal of Human Genetics
Genetics
Refinement of the Locus for Hereditary Congenital Facial Palsy on Chromosome 3q21 in Two Unrelated Families and Screening of Positional Candidate Genes
European Journal of Human Genetics
Genetics
Structural Variation in Xq28: MECP2 Duplications in 1% of Patients With Unexplained XLMR and in 2% of Male Patients With Severe Encephalopathy
European Journal of Human Genetics
Genetics
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