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Molecular Genetics & Genomic Medicine|May 9, 2024
Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell modelMaryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, et al.
Molecular Genetics & Genomic Medicine|May 11, 2024
Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndromeZhi Lei, Xiaorui Song, Xuan Zheng, et al.
Molecular Genetics & Genomic Medicine|April 9, 2024
Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2)Xuefei Chen, Chaochun Zou
Molecular Genetics & Genomic Medicine|April 8, 2024
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature reviewQiqing Sun, Zhenhua Xie, Lifang Song, et al.
Molecular Genetics & Genomic Medicine|October 30, 2023
Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor-forming potential in an early-stage prostate cancer epithelial subline (M2205)Prabakaran Paulraj, Elizabeth Barrie, Colleen Jackson-Cook
Molecular Genetics & Genomic Medicine|October 11, 2023
Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of IranSeyed Reza Kazemi Nezhad, Pegah Namdar Aligoodarzi, Golale Rostami, et al.
Molecular Genetics & Genomic Medicine|April 29, 2026
Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male PatientsQingming Wang, Huimin Xiao, Fang Zhang, et al.
Molecular Genetics & Genomic Medicine|April 27, 2026
Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular ManifestationsIbrahim Taha, Antonella Minelli, Cesare Danesino, et al.
Molecular Genetics & Genomic Medicine|April 21, 2026
A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome SequencingFanjuan Kong, Zhaochu Yin, Haiyan Zhou, et al.
Molecular Genetics & Genomic Medicine|June 9, 2026
Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct PhenotypesJiahui Yu, Yan Zhang, Wenlong Shen, et al.
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