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Scientific Reports|January 11, 2023
Microdeletions and microduplications linked to severe congenital disorders in infertile menTriin Kikas, Anna Maria Punab, Laura Kasak, et al.American Journal of Human Genetics|August 4, 2018
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive AzoospermiaLaura Kasak, Margus Punab, Liina Nagirnaja, et al.Human Reproduction (Oxford, England)|May 10, 2022
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient managementLaura Kasak, Kristiina Lillepea, Liina Nagirnaja, et al.American Journal of Human Genetics|April 13, 2024
Toward clinical exomes in diagnostics and management of male infertilityKristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, et al.Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, et al.Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.Human Genetics|May 8, 2021
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failureJimmaline J Hardy, Margot J Wyrwoll, William Mcfadden, et al.Frontiers in Endocrinology|April 24, 2024
Undiagnosed RASopathies in infertile menAnna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, et al.Human Mutation|July 14, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variantsLaura Kasak, Constantina Bakolitsa, Zhiqiang Hu, et al.Nature Communications|December 26, 2022
Diverse monogenic subforms of human spermatogenic failureLiina Nagirnaja, Alexandra M Lopes, Wu-Lin Charng, et al.Pageof 2