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Molecular Genetics & Genomic Medicine|August 31, 2019
A genome-wide association and replication study of blood pressure in Ugandan early adolescentsSwaib A Lule, Alexander J Mentzer, Benigna Namara, et al.Molecular Genetics & Genomic Medicine|September 3, 2019
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patientsJihye Park, Hyun Mi Oh, Hye Jung Park, et al.Molecular Genetics & Genomic Medicine|September 3, 2019
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndromeLuc Cozijnsen, Astrid S Plomp, Jan G Post, et al.Molecular Genetics & Genomic Medicine|August 24, 2019
TNF-α polymorphisms affect persistence and progression of HBV infectionAnna Woziwodzka, Magda Rybicka, Alicja Sznarkowska, et al.Molecular Genetics & Genomic Medicine|August 24, 2019
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of QatarSara Al-Khawaga, Idris Mohammed, Saras Saraswathi, et al.Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.Molecular Genetics & Genomic Medicine|August 9, 2019
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalusSheng Chih Jin, Charuta G Furey, Xue Zeng, et al.Molecular Genetics & Genomic Medicine|July 22, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disabilityWayne W K Lam, John J Millichap, Dinesh C Soares, et al.Molecular Genetics & Genomic Medicine|August 29, 2025
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical HomocystinuriaJingfei Zhang, Xinyu Lin, Xinmei Liu, et al.Molecular Genetics & Genomic Medicine|September 6, 2025
46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal OutcomeWafa Baqri, Elaine S Goh, Anne Berndl, et al.Pageof 251