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Publications by Hilde Van Esch

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

American Journal of Human Genetics
Genetics
2019English

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
2019English

Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients

Genetics in Medicine
MedicineGenetics
2012English

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2014English

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

Human Mutation
Genetics
2017English

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated With Mental Retardation

American Journal of Human Genetics
Genetics
2008English

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients With X-Linked Disorders

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2009English

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
2008English

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