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Publications by Hilde Van Esch
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
American Journal of Human Genetics
Genetics
Defective DNA Polymerase Α-Primase Leads to X-Linked Intellectual Disability Associated With Severe Growth Retardation, Microcephaly, and Hypogonadism
American Journal of Human Genetics
Genetics
Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients
Genetics in Medicine
Medicine
Genetics
Pseudoautosomal Region 1 Length Polymorphism in the Human Population
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing
Human Mutation
Genetics
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
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