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Molecular Genetics & Genomic Medicine|November 23, 2024
A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature ReviewEmran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, et al.
Molecular Genetics & Genomic Medicine|November 25, 2024
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative StudyDavid Zammitt, Emilie V Brotherhood, Caroline Fearn, et al.
Molecular Genetics & Genomic Medicine|May 29, 2026
Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 GeneWenlong Shen, Yan Zhang, Junjie Wu, et al.
Molecular Genetics & Genomic Medicine|February 21, 2026
Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese ChildrenYuzhuopu Li, Yang Wang, Tao Liu, et al.
Molecular Genetics & Genomic Medicine|June 10, 2026
Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature ReviewMauro Lecca, Chiara Bosetti, Federico Ruoli, et al.
Molecular Genetics & Genomic Medicine|June 12, 2026
A Rare Clinical Presentation of Variegate PorphyriaI Viakhireva, A Murtazina, A Orlova, et al.
Molecular Genetics & Genomic Medicine|April 27, 2026
Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource SettingNadja Louw, Samantha Schnell, Mhlekazi Molatoli, et al.
Molecular Genetics & Genomic Medicine|April 27, 2026
Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for HypomyelinationSi Huang, Yiyang Li, Jing Xin, et al.
Molecular Genetics & Genomic Medicine|June 8, 2026
MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular TachycardiaSamira Kalayinia, Tannaz Masoumi, Amirreza Taherkhani, et al.
Molecular Genetics & Genomic Medicine|July 18, 2023
Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndromeWon Young Heo, Shin Yi Jang, Taek Kyu Park, et al.
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