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Molecular Genetics & Genomic Medicine|September 22, 2020
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networksPaul Hillman, Craig Baker, Luke Hebert, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Molecular Genetics & Genomic Medicine|December 28, 2020
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 geneLi Tan, Ying Li, Fan Liu, et al.
Molecular Genetics & Genomic Medicine|October 28, 2021
Five novel globin gene mutations identified in five Chinese families by next-generation sequencingJie Zhang, Meijuan Xie, Zhiyu Peng, et al.
Molecular Genetics & Genomic Medicine|October 19, 2019
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndromeMinna Luo, Li Cao, Zongfu Cao, et al.
Molecular Genetics & Genomic Medicine|January 8, 2016
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patientsZi-Chuan Fan, Jin-Wen Ni, Lin Yang, et al.
Molecular Genetics & Genomic Medicine|January 8, 2016
Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic populationDeborah Edelman, Harmit Kalia, Maria Delio, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Johann Gregor Mendel: paragon of experimental scienceMauricio De Castro
Molecular Genetics & Genomic Medicine|October 6, 2015
Novel recruitment strategy to enrich for LRRK2 mutation carriersTatiana Foroud, Danielle Smith, Jacqueline Jackson, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adultsNir Pillar, Ofer Isakov, Daphna Weissglas-Volkov, et al.
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