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Journal of Human Genetics|March 24, 2017
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal eventMaggie Brett, George Korovesis, Angeline H M Lai, et al.Journal of Human Genetics|November 7, 2018
Interaction of MTHFR C677T polymorphism with smoking in susceptibility to diabetic nephropathy in Chinese men with type 2 diabetesLiang Ma, Yongwei Jiang, Xiaomu Kong, et al.Journal of Human Genetics|November 8, 2018
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiencyKenji Yamada, Takeshi TaketaniJournal of Human Genetics|November 10, 2018
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.Journal of Human Genetics|October 8, 2019
Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patientsTsuneo Ikenoue, Masami Arai, Chikashi Ishioka, et al.Journal of Human Genetics|April 4, 2008
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial causeVineta Fellman, Susanna Lemmelä, Antti Sajantila, et al.Journal of Human Genetics|April 9, 2008
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiencyAyako Tabata, Jian-Sheng Sheng, Miharu Ushikai, et al.Journal of Human Genetics|April 9, 2008
Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphismRute Martins, Anabela Morais, Alexandra Dias, et al.Journal of Human Genetics|May 16, 2008
TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palateHeiko Reutter, Stefanie Birnbaum, Meinhard Mende, et al.Journal of Human Genetics|May 17, 2008
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutationsTawhida Y Abdelghaffar, Solaf M Elsayed, Ezzat Elsobky, et al.Pageof 351