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Human Genomics|October 23, 2019
An embedded method for gene identification problems involving unwanted data heterogeneityMeng LuHuman Genomics|August 14, 2016
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfectaBinh Ho Duy, Lidiia Zhytnik, Katre Maasalu, et al.Human Genomics|March 7, 2023
Association between interleukin-10 gene polymorphisms (rs1800871, rs1800872, and rs1800896) and severity of infection in different SARS-CoV-2 variantsSattar Jabbar Abbood Abbood, Enayat Anvari, Abolfazl FatehHuman Genomics|February 12, 2026
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical managementHammad Yousaf, Sajid Ali, Ahad Yousuf Moulvi, et al.Human Genomics|January 10, 2026
Epimutation analysis reveals involvement of SLIT2/ROBO signaling pathway in painful diabetic neuropathyKatarzyna Malgorzata Kwiatkowska, Paolo Garagnani, Francesca Ferraresi, et al.Human Genomics|December 30, 2025
Distinct pathogenic mechanisms underlying two protein C variants (p.Arg211Gln and p.Val367Met) in a thrombophilic family: integrated functional and structural analysesHuayang Zhang, Chong Wang, Huiqin Jiang, et al.Human Genomics|January 8, 2026
Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia BHuayang Zhang, Chong Wang, Meixiu Gu, et al.Human Genomics|March 1, 2023
Global distribution of functionally important CYP2C9 alleles and their inferred metabolic consequencesYitian Zhou, Lenka Nevosadová, Erik Eliasson, et al.Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.Human Genomics|March 21, 2023
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathyStéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, et al.Pageof 112