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Molecular Genetics and Metabolism|October 22, 2013
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencingHui Yu, Clara van Karnebeek, Graham Sinclair, et al.
Scientific Reports|February 12, 2021
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohortKunjing Gong, Min Xia, Yaqin Wang, et al.
Molecular Genetics & Genomic Medicine|February 14, 2022
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patientsJianbo Zhao, Guizhen Lyu, Changhong Ding, et al.
Molecular Genetics and Metabolism|February 3, 2019
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic motherMartine Uittenbogaard, Hao Wang, Victor Wei Zhang, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2María C Barboza-Cerda, Lee-Jun Wong, Laura E Martínez-de-Villarreal, et al.
Human Reproduction (Oxford, England)|February 9, 2017
Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literaturePing Yuan, Zuyong He, Lingyan Zheng, et al.
Molecular Neurobiology|July 8, 2020
The Study of Genetic Susceptibility and Mitochondrial Dysfunction in Mesial Temporal Lobe EpilepsyHaiyan Yang, Fei Yin, Siyi Gan, et al.
Frontiers in Genetics|April 25, 2022
Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 GeneFang Chen, Zhiwei Xie, Victor Wei Zhang, et al.
Chemosphere|November 26, 2019
Ammonia, thiocyanate, and cyanate removal in an aerobic up-flow submerged attached growth reactor treating gold mine wastewaterAlessandro di Biase, Victor Wei, Maciej S Kowalski, et al.
Prenatal Diagnosis|September 6, 2021
Exome-based preconception carrier testing for consanguineous couples in ChinaYi He, Run-Gui Xie, Ji-Wu Lou, et al.
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