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Last Updated: 01/07/2026
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Found 116 publications
Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.
Journal: Nigerian medical journal : journal of the Nigeria Medical Association
Published: October 31, 2025
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Journal: Clinical genetics
Published: November 10, 2024
A Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic.
Journal: Fetal and pediatric pathology
Published: October 16, 2024
Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.
Journal: Nature communications
Published: September 16, 2024
New functions of B9D2 in tight junctions and epithelial polarity.
Journal: Scientific reports
Published: July 09, 2024
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.
Journal: Journal of human genetics
Published: June 07, 2024
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Journal: International journal of biological sciences
Published: May 29, 2024
Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 04, 2024
Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: January 15, 2024
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.
Journal: Molecular genetics & genomic medicine
Published: September 27, 2023
Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 20, 2023
Last Updated: 01/07/2026