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Molecular Genetics & Genomic Medicine|July 21, 2026
A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular FindingsHind Alsharhan, Worood Alostad, Alshaymaa A Ali, et al.
Molecular Genetics & Genomic Medicine|July 28, 2026
Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing AnalysisQian Liu, Xueqin Cheng, Bixia Zheng, et al.
Molecular Genetics & Genomic Medicine|July 26, 2026
Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature ReviewLu Liu, Yidan Cao, Yunhua Zheng, et al.
Molecular Genetics & Genomic Medicine|July 15, 2026
RETRACTION: Lnc-GIHCG Promotes Cell Proliferation and Migration in Gastric Cancer through miR- 1281 Adsorption
Molecular Genetics & Genomic Medicine|July 22, 2026
Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese PopulationZhuoyao Guo, Ping Li, Gaoli Jiang, et al.
Molecular Genetics & Genomic Medicine|July 23, 2026
Prenatal Etiology Diagnosis of Rare Compound Heterozygous PROC Gene Variants in a Fetus With Ocular Ultrasonic Anomaly Using Whole Exome SequencingJianlong Zhuang, Nan Huang, Ling Gu, et al.
Molecular Genetics & Genomic Medicine|September 8, 2026
Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1DPatracia Nevondwe, Maria Mudau, Heather Seymour, et al.
Molecular Genetics & Genomic Medicine|February 12, 2025
Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound HeterozygosityR Bermejo Ramírez, N Villena Gascó, L Ruiz Palmero, et al.
Molecular Genetics & Genomic Medicine|September 4, 2026
Genomic Profiling of Anophthalmia/Microphthalmia-Associated CNVs Reveals Complex Genotype-Phenotype Correlations and Incomplete PenetranceDong Wu, Mengting Zhang, Qian Zhang, et al.
Molecular Genetics & Genomic Medicine|September 14, 2026
UBE2D4 Upregulation Promotes Cuproptosis Sensitivity in Colorectal CancerBiaoyu Wang, Chan Li, Xianwen Guo, et al.
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