Showing results (521-530 of 2,512) with videos related to

Sort By:
Pageof 252
Molecular Genetics & Genomic Medicine|November 29, 2025
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese FamilyQi Yang, Wei He, Qiang Zhang, et al.
Molecular Genetics & Genomic Medicine|February 10, 2025
Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature ReviewDan Chen, Li Zhang, Jing Rao, et al.
Molecular Genetics & Genomic Medicine|February 7, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental SyndromeAlice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, et al.
Molecular Genetics & Genomic Medicine|January 29, 2025
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing LossMargherita Scarpato, Francesco Testa, Anna Nesti, et al.
Molecular Genetics & Genomic Medicine|March 14, 2025
Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal DiagnosisYanan Wang, Yong Zhou, Yuqiong Chai, et al.
Molecular Genetics & Genomic Medicine|March 13, 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to ExonsKosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, et al.
Molecular Genetics & Genomic Medicine|February 25, 2025
Identification and Validation of Biomarkers in Metabolic Dysfunction-Associated Steatohepatitis Using Machine Learning and BioinformaticsYu-Ying Zhang, Jin-E Li, Hai-Xia Zeng, et al.
Molecular Genetics & Genomic Medicine|January 20, 2025
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant AnalysisQian Liu, Feifei Li, Qin Ruan, et al.
Molecular Genetics & Genomic Medicine|January 13, 2025
Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro ModelMarina Parezanovic, Nina Stevanovic, Marina Andjelkovic, et al.
Molecular Genetics & Genomic Medicine|March 12, 2025
Genome-Wide Scan of Fifth Finger ClinodactylyMyoung Keun Lee, Noah Herrick, Mary L Marazita, et al.
Pageof 252