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Molecular Genetics & Genomic Medicine|January 24, 2015
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanismsBerivan Baskin, Dimitri J Stavropoulos, Paige A Rebeiro, et al.Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.Molecular Genetics & Genomic Medicine|June 27, 2020
Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, PakistanMaryam Shah, Lubna Danish, Najeeb U Khan, et al.Molecular Genetics & Genomic Medicine|June 27, 2020
A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese familyYaxin Han, Dongming Wang, Jinli Guo, et al.Molecular Genetics & Genomic Medicine|June 27, 2020
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilitiesMamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, et al.Molecular Genetics & Genomic Medicine|June 28, 2020
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedemaSylvain Mukenge, Sawan K Jha, Marco Catena, et al.Molecular Genetics & Genomic Medicine|July 1, 2020
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathySeung Hoon Lee, Jung Min Ko, Mi-Kyoung Song, et al.Molecular Genetics & Genomic Medicine|May 8, 2023
Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sampleLina Jonsson, Joanna Martin, Paul Lichtenstein, et al.Molecular Genetics & Genomic Medicine|May 14, 2023
No association between MTHFR gene C677T/A1298C polymorphisms, serum folate, vitamin B12, homocysteine levels, and prostate cancer in an Algerian populationRima Mouhoub-Terrab, Abdel Aziz Chibane, Malika KhelilPageof 252