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Molecular Genetics & Genomic Medicine|February 2, 2019
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathyYi Tang, Qi Qin, Yi Xing, et al.
Molecular Genetics & Genomic Medicine|February 2, 2019
Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratoryCarrie Guy, Farnoosh Haji-Sheikhi, Charles M Rowland, et al.
Molecular Genetics & Genomic Medicine|January 8, 2019
Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetranceKaren J Woodward, Julie Stampalia, Hannah Vanyai, et al.
Molecular Genetics & Genomic Medicine|March 15, 2018
Neurobehavioral features in individuals with Kabuki syndromeCristina Caciolo, Paolo Alfieri, Giorgia Piccini, et al.
Molecular Genetics & Genomic Medicine|January 15, 2019
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinIONMelissa Leija-Salazar, Fritz J Sedlazeck, Marco Toffoli, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiencyXinran Cheng, Fang Tang, Xuyun Hu, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Association between IL-4 tagging single nucleotide polymorphisms and the risk of lung cancer in ChinaNan Tan, Jiangjiang Song, Mengdan Yan, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroidsTorsten Kraya, Dagmar Quandt, Thorsten Pfirrmann, et al.
Molecular Genetics & Genomic Medicine|February 9, 2019
Icariin inhibits chondrocyte apoptosis and angiogenesis by regulating the TDP-43 signaling pathwayHe Huang, Zhao-Fei Zhang, Feng-Wei Qin, et al.
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