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Molecular Genetics & Genomic Medicine|July 22, 2024
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorderMuhammad Umair, Meshael Alharbi, Essra Aloyouni, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature reviewJing Wang, Huijun Yu, Xiaoying Zhang, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29Jae In Lee, Ja Young Choi, Shin-Seung Yang
Molecular Genetics & Genomic Medicine|June 19, 2024
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variantIrene Capelli, Roberta Di Costanzo, Valeria Aiello, et al.
Molecular Genetics & Genomic Medicine|June 18, 2024
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literatureNaser Gilani, Fatemeh Bitarafan, Mehmet Ozaslan, et al.
Molecular Genetics & Genomic Medicine|November 2, 2023
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delayAnn-Charlotte Thuresson, Jan Brazina, Talia Akram, et al.
Molecular Genetics & Genomic Medicine|October 25, 2023
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problemsAtefeh Mir, Yongjun Song, Hane Lee, et al.
Molecular Genetics & Genomic Medicine|October 31, 2023
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature reviewQiqing Sun, Zhenhua Xie, Fangjie Wang, et al.
Molecular Genetics & Genomic Medicine|September 4, 2023
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>GVivian Reinhold, Stina Syrjänen, Minna Kankuri-Tammilehto
Molecular Genetics & Genomic Medicine|August 31, 2023
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature reviewZheng Zhou, Ye Zhang, Lijing Zhu, et al.
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