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Orphanet Journal of Rare Diseases|September 11, 2023
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patientsBiyun Feng, Xin Li, Qianwen Zhang, et al.
The Journal of Clinical Endocrinology and Metabolism|December 1, 2021
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short StatureXin Li, Ruen Yao, Guoying Chang, et al.
Genome Medicine|December 5, 2025
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNALanlan Zhang, Renyi Hua, Yiming Wu, et al.
European Journal of Endocrinology|July 6, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex developmentYufei Xu, Yirou Wang, Niu Li, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 4, 2017
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variantsXuyun Hu, Hongdou Li, Baoheng Gui, et al.
Journal of Cellular Biochemistry|May 23, 2007
Development and iron-dependent expression of hephaestin in different brain regions of ratsZhong-Ming Qian, Yan-Zhong Chang, Li Zhu, et al.
Orphanet Journal of Rare Diseases|October 12, 2018
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patientsNiu Li, Yirou Wang, Yu Yang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 12, 2017
Novel pathogenic ACAN variants in non-syndromic short stature patientsXuyun Hu, Baoheng Gui, Jiasun Su, et al.
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