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American Journal of Human Genetics|January 9, 2008
C6ORF66 is an assembly factor of mitochondrial complex IAnn Saada, Simon Edvardson, Matan Rapoport, et al.Molecular Genetics and Metabolism|November 1, 2002
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acidsEfrat Ben-Shalom, Keiko Kobayashi, Avraham Shaag, et al.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.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.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.Journal of Medical Genetics|August 27, 2015
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patientsShimon Edvardson, Frank Gerhard, Chaim Jalas, et al.Annals of Neurology|October 3, 2009
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosisRonen Spiegel, Avraham Shaag, Simon Edvardson, et al.European Journal of Human Genetics : EJHG|March 5, 2009
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus JewsRonen Spiegel, Avraham Shaag, Hanna Mandel, et al.Muscle & Nerve|August 23, 2015
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Ulla Najwa Abdulhaq, Mohannad Daana, Talia Dor, et al.Pageof 10