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Molecular Genetics & Genomic Medicine|February 20, 2025
Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating LeukodystrophyAli Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, et al.
Molecular Genetics & Genomic Medicine|August 9, 2024
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric populationGiulia Pascolini, Martina Lipari, Federica Gaudioso, et al.
Molecular Genetics & Genomic Medicine|August 10, 2024
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reportedCesar Augusto B Duarte, Carlos Alberto Dos Santos, Cristine Domingues D de Oliveira, et al.
Molecular Genetics & Genomic Medicine|August 12, 2024
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type ILulu Yan, Shuxia Ding, Yan He, et al.
Molecular Genetics & Genomic Medicine|June 28, 2024
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11Irene Mademont-Soler, Susanna Esteba-Castillo, Aida Jiménez-Xifra, et al.
Molecular Genetics & Genomic Medicine|January 19, 2023
Clinical features and molecular characterization of Chinese patients with FKBP10 variantsZhijia Tan, Hiu Tung Shek, Peikai Chen, et al.
Molecular Genetics & Genomic Medicine|December 29, 2022
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from IranAtefe Papi, Mina Zamani, Gholamreza Shariati, et al.
Molecular Genetics & Genomic Medicine|November 23, 2022
Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individualsNafise Afkhami, Malihe Aghasizadeh, Somayeh Ghiasi Hafezi, et al.
Molecular Genetics & Genomic Medicine|November 25, 2022
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotypeElizabeth A Ulm, Chinmayee B Nagaraj, Cuixia Tian, et al.
Molecular Genetics & Genomic Medicine|November 23, 2019
A new frameshift mutation in L1CAM producing X-linked hydrocephalusWeiqi Kong, Xueyan Wang, Jing Zhao, et al.
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