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Last Updated: 10/31/2025
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Found 29 publications
Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 28, 2023
SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.
Journal: eLife
Published: February 12, 2021
Loss of cGMP-dependent protein kinase II alters ultrasonic vocalizations in mice, a model for speech impairment in human microdeletion 4q21 syndrome.
Journal: Neuroscience letters
Published: January 06, 2021
Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.
Journal: Cytogenetic and genome research
Published: September 25, 2020
Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature.
Journal: Cytogenetic and genome research
Published: February 12, 2019
Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.
Journal: Archives of gynecology and obstetrics
Published: February 16, 2017
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.
Journal: Cytogenetic and genome research
Published: July 11, 2016
Bilateral absence of the ulna in 4q terminal deletion syndrome: evidence for a critical region.
Journal: Clinical dysmorphology
Published: February 27, 2015
Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?
Journal: Journal of the neurological sciences
Published: September 16, 2014
4q21 microdeletion in a patient with epilepsy and brain malformations.
Journal: American journal of medical genetics. Part A
Published: September 04, 2014
Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: May 01, 2014
Last Updated: 10/31/2025