Showing results (821-830 of 2,517) with videos related to

Sort By:
Pageof 252
Molecular Genetics & Genomic Medicine|January 29, 2025
Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature ReviewYujun Sun, Jiayuan Zheng, Lei He, et al.
Molecular Genetics & Genomic Medicine|January 21, 2025
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental IsodisomyHane Lee, Dongseok Moon, Rin Khang, et al.
Molecular Genetics & Genomic Medicine|January 20, 2025
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic DetectionLi-Min Cui, Hua-Ying Hu, Xiao-Mei Zhai, et al.
Molecular Genetics & Genomic Medicine|January 24, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian PopulationMohamed H Al-Hamed, Alya Qari, Lamya Alrayes, et al.
Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.
Molecular Genetics & Genomic Medicine|January 7, 2025
A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case ReportZahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, et al.
Molecular Genetics & Genomic Medicine|January 7, 2025
Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3Haixia Zheng, Chongsheng Cheng, Miao He, et al.
Molecular Genetics & Genomic Medicine|January 3, 2025
Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variantShuai Zhang, Guanyu Fu, Gongping Sun, et al.
Molecular Genetics & Genomic Medicine|December 27, 2024
Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic TestingZhiping Zhang, Jiayao Chen, Lei Zhang, et al.
Molecular Genetics & Genomic Medicine|March 11, 2025
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 VariantMohammad Reza Mirinezhad, Farzaneh Mirzaei, Arash Salmaninejad, et al.
Pageof 252