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Annals of Human Genetics|December 5, 2025
The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual DisabilityKenza Javed, Nazif Muhammad, Syeda Iqra Hussain, et al.Annals of Human Genetics|August 30, 2024
Spinocerebellar ataxia type 10 and Huntington disease-like 2 in Venezuela: Further evidence of two different ancestral founder effectsIrene Paradisi, Sergio Arias, Vassiliki IkonomuAnnals of Human Genetics|November 15, 2024
Secondary findings in 443 exome sequencing dataMarija Branković, Heonjong Han, Milena Janković, et al.Annals of Human Genetics|November 8, 2024
Clinical and immunological features of four patients with activation-induced cytidine deaminase deficiency: Renal amyloidosis and other presentationsSafa S Meshaal, Rabab E El Hawary, Dalia S Abd Elaziz, et al.Annals of Human Genetics|July 11, 2024
Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta-analysis and Mendelian randomization studyJing Peng, Lianghua Li, Huai Ning, et al.Annals of Human Genetics|October 24, 2023
Functions of cilia in cardiac development and diseaseWasay Mohiuddin Shaikh Qureshi, Kathryn E HentgesAnnals of Human Genetics|September 15, 2023
Histone modification: Biomarkers and potential therapies in colorectal cancerXin An, Xiaohua Lan, Zizhen Feng, et al.Annals of Human Genetics|August 11, 2023
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotypeIrem Kalay, Cagri Gulec, Mehmet Cihan Balcı, et al.Annals of Human Genetics|December 18, 2023
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessmentBoudour Khabou, Fakhri Kallabi, Rim Ben Abdelaziz, et al.Annals of Human Genetics|November 29, 2023
Expression analysis of NF1-mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCRPaola Bettinaglio, Viviana Tritto, Rosina Paterra, et al.Pageof 231