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Human Genetics|September 12, 2000
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposisL K Su, G Steinbach, J C Sawyer, et al.Human Genetics|February 24, 2001
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphismS Seixas, O Garcia, M J Trovoada, et al.Human Genetics|February 24, 2001
Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergenceH Winter, L Langbein, M Krawczak, et al.Human Genetics|February 24, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North AmericaM T Bassi, A A Bergen, P Bitoun, et al.Human Genetics|January 12, 2001
Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophyC Helmken, B WirthHuman Genetics|January 12, 2001
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patientsA Tessitore, G R Villani, C Di Domenico, et al.Human Genetics|January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service deliveryStephanie Luca, Marc Clausen, Angela Shaw, et al.Human Genetics|December 16, 2022
Mate-pair genome sequencing reveals structural variants for idiopathic male infertilityZirui Dong, Jicheng Qian, Tracy Sze Man Law, et al.Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.Human Genetics|January 1, 1985
Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzymeH de Verneuil, M Doss, N Brusco, et al.Pageof 959