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Molecular Genetics & Genomic Medicine|July 24, 2023
A de novo variant of BICRA results in Coffin-Siris syndrome 12Youquan Tu, Chunyan Fang, Jian Xu, et al.
Molecular Genetics & Genomic Medicine|July 25, 2023
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patientShuo Tang, Jieyu You, Li Liu, et al.
Molecular Genetics & Genomic Medicine|August 1, 2023
Noonan syndrome: rhGH treatment and PTPN11 mutationXian Wu, Jiali Wu, Yi Yuan, et al.
Molecular Genetics & Genomic Medicine|August 4, 2023
Systematic review on gene-sun exposure interactions in skin cancerRasha Shraim, Mohamed Ziad Farran, George He, et al.
Molecular Genetics & Genomic Medicine|June 18, 2023
Mutations obstructing ATP's emplacement in KIF2A nucleotide-binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disabilityXiuying Zhao, Tao Chen, Binsha Fu, et al.
Molecular Genetics & Genomic Medicine|June 23, 2023
From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 geneAhmed Bouras, Clementine Legrand, Jihen Kourda, et al.
Molecular Genetics & Genomic Medicine|April 19, 2026
Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent CasesYan-Fang Li, Song-Hui Zhang, Li Zhen, et al.
Molecular Genetics & Genomic Medicine|March 23, 2026
Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature ReviewArash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, et al.
Molecular Genetics & Genomic Medicine|April 15, 2026
Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3Mei Ye, Xiao Ping Qiu, Shengnan Zhang, et al.
Molecular Genetics & Genomic Medicine|May 7, 2026
GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the LiteratureRai-Hseng Hsu, Wuh-Liang Hwu, Feng-Jung Yang, et al.
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