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Esther Leshinsky-Silver

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Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophySahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, et al.
Gut|January 25, 2011
Variants in ZNF365 isoform D are associated with Crohn's diseaseTalin Haritunians, Michelle R Jones, Dermot P B McGovern, et al.
Human Mutation|January 6, 2017
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMOMartina Skopkova, Friederike Hennig, Byung-Sik Shin, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Pageof 7

Showing results (61-70 of 69) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 69 results.
Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophySahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, et al.
Gut|January 25, 2011
Variants in ZNF365 isoform D are associated with Crohn's diseaseTalin Haritunians, Michelle R Jones, Dermot P B McGovern, et al.
Human Mutation|January 6, 2017
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMOMartina Skopkova, Friederike Hennig, Byung-Sik Shin, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Pageof 7