Showing results (121-130 of 214) with videos related to
Sort By:
Pageof 22
American Journal of Human Genetics|September 27, 2008
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhoodAvraham Zeharia, Avraham Shaag, Riekelt H Houtkooper, et al.Plos One|May 8, 2012
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismSimon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, et al.Plos One|March 26, 2013
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defectsAmjad Horani, Thomas W Ferkol, David Shoseyov, et al.The Journal of Pediatrics|August 13, 2016
Extending the Clinical Phenotype of Adenosine Deaminase 2 DeficiencyTal Ben-Ami, Shoshana Revel-Vilk, Rebecca Brooks, et al.Human Molecular Genetics|February 4, 2017
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathwayShimon Edvardson, Guoling Tian, Hayley Cullen, et al.International Journal of Molecular Sciences|July 28, 2022
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and AtaxiaGiorgia Dinoi, Michael Morin, Elena Conte, et al.American Journal of Medical Genetics. Part A|November 14, 2017
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafnessVincent J Guen, Simon Edvardson, Nitay D Fraenkel, et al.American Journal of Human Genetics|September 8, 2009
Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia, Avraham Shaag, Orit Pappo, et al.Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.Journal of Medical Genetics|January 15, 2014
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutationAsaf Ta-Shma, Nael El-lahham, Simon Edvardson, et al.Pageof 22