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Last Updated: 10/31/2025
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Found 30 publications
Association of ring chromosome 18 and Prader-Willi syndrome: the first described case report.
Journal: Pediatric endocrinology, diabetes, and metabolism
Published: May 12, 2025
TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report.
Journal: American journal of medical genetics. Part A
Published: February 03, 2025
Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 01, 2024
Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.
Journal: AJNR. American journal of neuroradiology
Published: February 18, 2024
A case report of Ring chromosome 18 with systemic Lupus Erythematosus and Crohn's disease.
Journal: Molecular biology reports
Published: August 29, 2021
Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 09, 2021
Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.
Journal: Stem cell research
Published: September 25, 2020
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.
Journal: BMC medical genomics
Published: May 15, 2020
Blaschkoid hypermelanosis in a patient with ring 18 chromosome.
Journal: Indian journal of dermatology, venereology and leprology
Published: March 27, 2020
Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 11, 2019
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes.
Journal: The Journal of craniofacial surgery
Published: October 16, 2015
Patchy white matter hyperintensity in ring chromosome 18 syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: October 14, 2015
Last Updated: 10/31/2025