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Molecular Genetics & Genomic Medicine|November 16, 2023
Allele-specific long-range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology researchEva Maria Matzhold, Camilla Drexler-Helmberg, Wolfgang Helmberg, et al.
Molecular Genetics & Genomic Medicine|November 29, 2023
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletionsYang Zhao, Yue Hou, Xutong Zhao, et al.
Molecular Genetics & Genomic Medicine|December 22, 2023
A Chinese patient with Rothmund-Thomson syndromeJuan Zeng, Jiayi Li, Yuwei Liu, et al.
Molecular Genetics & Genomic Medicine|March 30, 2024
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature reviewKanako Higashi, Yuri Sonoda, Noriyuki Kaku, et al.
Molecular Genetics & Genomic Medicine|February 26, 2024
A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature reviewF-X Van Vyve, N Mercier, J Papadopoulos, et al.
Molecular Genetics & Genomic Medicine|December 12, 2023
Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese familyJiamei Zhang, Hongxing Liu, Mingmei Wang, et al.
Molecular Genetics & Genomic Medicine|December 9, 2023
Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese familiesYa Zhao, Jiabao Ren, Lingqiang Meng, et al.
Molecular Genetics & Genomic Medicine|November 14, 2023
Functional analysis of a novel splice site variant in the ASAH1 geneShujuan Yan, Fang Fu, Hang Zhou, et al.
Molecular Genetics & Genomic Medicine|November 14, 2023
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature reviewLing Su, Min-Zhi Peng, Xiao-Dan Chen, et al.
Molecular Genetics & Genomic Medicine|July 15, 2024
Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case reportLiya Wang, Wenshan Zeng, Yeqing Qian, et al.
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