Related Experiment Videos
Renal and urological tract malformations caused by a 22q11 deletion
Journal of Medical Genetics
|April 1, 1996
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Association of behavioural and social-communicative profiles in children with 16p11.2 copy number variants: a multi-site study.
Journal of intellectual disability research : JIDR·2024
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study.
Journal of endocrinological investigation·2024
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.
Journal of intellectual disability research : JIDR·2023
[Monogenetic causes of psychiatric disorders: a review].
Tijdschrift voor psychiatrie·2022
The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
Journal of intellectual disability research : JIDR·2022
Exploring the clinical and mutational spectrum of MORC2-associated disorders.
Journal of medical genetics·2026
Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.
Journal of medical genetics·2026
Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.
Journal of medical genetics·2026
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.
Journal of medical genetics·2026
Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.
Journal of medical genetics·2026
Operative hysteroscopy vs vacuum aspiration for treatment of retained products of conception: A systematic review and meta-analysis.
Pakistan journal of medical sciences·2026
A novel hysteroscopic myomectomy strategy based on RoBEEM (Roller ball Enucleation followed by Excision Method): Integration of adjunctive techniques to expand TCR indications.
European journal of obstetrics & gynecology and reproductive biology: X·2026
The real-world practice of fertility preservation for patients with epithelial ovarian cancer in Asian regions.
Journal of gynecologic oncology·2026