Last Updated: 09/26/2026
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Found 6 publications
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Journal: American journal of human genetics
Published: February 28, 2016
Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.
Journal: F1000Research
Published: June 22, 2015
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Journal: European journal of human genetics : EJHG
Published: October 12, 2014
Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.
Journal: American journal of medical genetics. Part A
Published: August 29, 2013
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Journal: The New England journal of medicine
Published: September 14, 2012
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 14, 2012
Showing 1-6 of 6
Last Updated: 09/26/2026