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European Journal of Human Genetics : EJHG|May 1, 2014
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathyUlla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, et al.Bone|October 8, 2021
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosisEhud Even-Or, Gali Schiesel, Natalia Simanovsky, et al.Journal of Medical Genetics|October 9, 2012
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalusAnais Drielsma, Chaim Jalas, Nicolas Simonis, et al.Journal of Medical Genetics|May 22, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduriaHanna Mandel, Shotaro Saita, Simon Edvardson, et al.European Journal of Human Genetics : EJHG|August 3, 2017
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemiaBassam Abu-Libdeh, Liza Douiev, Sarah Amro, et al.Clinical Therapeutics|February 4, 2017
Tocilizumab Promotes Regulatory T-cell Alleviation in STAT3 Gain-of-function-associated Multi-organ Autoimmune SyndromeTawfik Khoury, Vered Molho-Pessach, Yuval Ramot, et al.Journal of Medical Genetics|January 23, 2013
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathySimon Edvardson, Shimrit Oz, Fida Aziz Abulhijaa, et al.Journal of Medical Genetics|May 12, 2012
A human laterality disorder associated with recessive CCDC11 mutationZeev Perles, Yuval Cinnamon, Asaf Ta-Shma, et al.American Journal of Human Genetics|October 23, 2008
The H syndrome is caused by mutations in the nucleoside transporter hENT3Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, et al.Neurogenetics|November 18, 2015
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerizationSimon Edvardson, Haibo Wang, Talya Dor, et al.Pageof 22