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Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnorma... by Qi Yang, Qi Yang, Qiang Zhang, Qiang Zhang, Xunzhao Zhou, Xunzhao Zhou, Juntan Feng, Shujie Zhang, Shujie Zhang, Li Lin, Li Lin, Shang Yi, Shang Yi, Zailong Qin, Zailong Qin, Jingsi Luo, Jingsi Luo, Jingsi Luo
Published 2024-12-01Get full text
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Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys by Li Lin, Li Lin, Qi Yang, Qi Yang, Shujie Zhang, Shujie Zhang, Xunzhao Zhou, Xunzhao Zhou, Xiaoling Li, Sheng Yi, Sheng Yi, Qiang Zhang, Qiang Zhang, Shang Yi, Shang Yi, Sheng He, Sheng He, Zailong Qin, Zailong Qin, Jingsi Luo, Jingsi Luo, Jingsi Luo
Published 2025-07-01Get full text
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Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal... by Jiasun Su, Shujie Zhang, Wei Li, Yuan Wei, Fei Lin, Chaofan Zhou, Xianglian Tang, Yueyun Lan, Minpan Huang, Qiang Zhang, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Zailong Qin, Peng Huang
Published 2025-02-01Get full text
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