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Human Genomics|August 19, 2025
Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasiaAyaka Murase, Hiroyuki Mishima, Saori Aoki, et al.Human Genomics|August 14, 2025
MicroRNAs in long COVID: roles, diagnostic biomarker potential and detectionNaomi-Eunicia Paval, Olga Adriana Căliman-Sturdza, Andrei Lobiuc, et al.Human Genomics|August 12, 2021
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data miningMohamed Abouelhoda, Dania Mohty, Islam Alayary, et al.Human Genomics|May 2, 2021
The transcriptome profile of human trisomy 21 blood cellsFrancesca Antonaros, Rossella Zenatelli, Giulia Guerri, et al.Human Genomics|August 5, 2021
The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case reviewSamantha S Sáenz, Benjamin Arias, Kazuyoshi Hosomichi, et al.Human Genomics|July 22, 2025
Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature reviewYujing Zhang, Mengxi Zhao, Xiangqian Li, et al.Human Genomics|July 9, 2025
Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancerElisabeth A Rosenthal, Wei-Qi Wei, Yuan Luo, et al.Human Genomics|July 27, 2025
A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysisHiba Alblooshi, Noor Mustafa, Azeem Abdul Khalam, et al.Human Genomics|June 28, 2025
Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasiaKangyu Liu, Yu Chen, Yunlong Meng, et al.Human Genomics|December 25, 2025
Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigreesYi-Feng Xu, Jing Zhang, Tian-Ying Wei, et al.Pageof 111