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Journal of Clinical Laboratory Analysis|April 11, 2020
Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese familyXiaohua Jin, Lisha An, Shengju Hao, et al.Journal of Medical Internet Research|June 2, 2025
Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language ModelsWei Zhong, Mingyue Sun, Shun Yao, et al.Orphanet Journal of Rare Diseases|May 26, 2023
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencingChuan Zhang, Yousheng Yan, Bingbo Zhou, et al.Human Genomics|April 25, 2023
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, ChinaChuan Zhang, Pei Zhang, Yousheng Yan, et al.Biomed Research International|June 21, 2019
Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingKai Yang, Ming Shen, Yousheng Yan, et al.Journal of Clinical Laboratory Analysis|September 10, 2020
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patientsChuan Zhang, Lisha An, Huiqin Xue, et al.Lipids in Health and Disease|January 11, 2024
The association between dyslipidaemia in the first trimester and adverse pregnancy outcomes in pregnant women with subclinical hypothyroidism: a cohort studyXueran Wang, Enjie Zhang, Zongyuan Tian, et al.Briefings in Bioinformatics|January 3, 2024
Identify gestational diabetes mellitus by deep learning model from cell-free DNA at the early gestation stageYipeng Wang, Pei Sun, Zicheng Zhao, et al.Molecular Psychiatry|January 5, 2023
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activityTian Meng, Xiaoting Chen, Zhengjie He, et al.Pageof 4