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Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.Nature Genetics|November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.The Journal of Investigative Dermatology|August 12, 2006
ABCA12 is the major harlequin ichthyosis geneAnna C Thomas, Tom Cullup, Elizabeth E Norgett, et al.Plos Genetics|September 19, 2014
HEATR2 plays a conserved role in assembly of the ciliary motile apparatusChristine P Diggle, Daniel J Moore, Girish Mali, et al.The Journal of Biological Chemistry|September 29, 2023
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesisRobert S Kiss, Jarred Chicoine, Youssef Khalil, et al.Scientific Reports|October 15, 2015
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2AJayaram Vijayakrishnan, Marc Henrion, Anthony V Moorman, et al.Nature Genetics|May 15, 2012
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein armsJennifer R Panizzi, Anita Becker-Heck, Victoria H Castleman, et al.American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.Blood|September 3, 2013
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotypeGabriele Migliorini, Bettina Fiege, Fay J Hosking, et al.The New England Journal of Medicine|May 8, 2009
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsDetlef Bockenhauer, Sally Feather, Horia C Stanescu, et al.Pageof 8