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Saber Imani et al, 2018, Journal of Cellular and Molecular Medicine CrossRef - An approach for state differentiation in nucleic acid circuits: Application to diagnostic DNA computing
Hanie Tajadini et al, 2024, Analytica Chimica Acta CrossRef - A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
Saba Shahid et al, 2019, Frontiers in Genetics CrossRef - CHM mutation spectrum and disease: An update at the time of human therapeutic trials
Christina Zeitz et al, 2021, Human Mutation CrossRef - A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
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Feng-Juan Gao et al, 2020, BMC Ophthalmology CrossRef - Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders
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Hui Tang et al, 2021, Journal of Genetics CrossRef - Choroideremia
Ian M. MacDonald et al, 2020, Hereditary Chorioretinal Disorders CrossRef - A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
Jiewen Fu et al, 2018, Journal of Cellular and Molecular Medicine CrossRef - Genetic identification and molecular modeling characterization reveal a novelPROM1mutation in Stargardt4-like macular dystrophy
Saber Imani et al, 2018, Oncotarget CrossRef - Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1
Lisha Yang et al, 2023, Molecular Biology Reports CrossRef - Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Lisha Yang et al, 2023, BMC Medical Genomics CrossRef - A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
Chunli Wei et al, 2018, BMC Medical Genetics CrossRef - Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method
Yanchou Ye et al, 2021, Molecular Genetics & Genomic Medicine CrossRef