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Showing results (81-90 of 153) with videos related to

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Human Genetics|June 24, 2019
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansThomas M Kitzler, Ronen Schneider, Stefan Kohl, et al.
Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.
Bone|July 26, 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseNan Yang, Aaron Schindeler, Michelle M McDonald, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
American Journal of Medical Genetics. Part A|August 7, 2018
Mutations in WDR4 as a new cause of Galloway-Mowat syndromeDaniela A Braun, Shirlee Shril, Aditi Sinha, et al.
Science (New York, N.Y.)|September 4, 2025
Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutationsHuihui Huang, Yi Wang, Zsuzsanna K Zsengeller, et al.
Cells|September 26, 2025
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in QuebecMarie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, et al.
Science (New York, N.Y.)|May 13, 2022
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene functionGökcen Eraslan, Eugene Drokhlyansky, Shankara Anand, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Nature Communications|September 30, 2023
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortalityYun Soo Hong, Stephanie L Battle, Wen Shi, et al.
Pageof 16

Showing results (81-90 of 153) with videos related to

Sort By:
Pageof 16
Human Genetics|June 24, 2019
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansThomas M Kitzler, Ronen Schneider, Stefan Kohl, et al.
Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.
Bone|July 26, 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseNan Yang, Aaron Schindeler, Michelle M McDonald, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
American Journal of Medical Genetics. Part A|August 7, 2018
Mutations in WDR4 as a new cause of Galloway-Mowat syndromeDaniela A Braun, Shirlee Shril, Aditi Sinha, et al.
Science (New York, N.Y.)|September 4, 2025
Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutationsHuihui Huang, Yi Wang, Zsuzsanna K Zsengeller, et al.
Cells|September 26, 2025
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in QuebecMarie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, et al.
Science (New York, N.Y.)|May 13, 2022
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene functionGökcen Eraslan, Eugene Drokhlyansky, Shankara Anand, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Nature Communications|September 30, 2023
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortalityYun Soo Hong, Stephanie L Battle, Wen Shi, et al.
Pageof 16