Search research articles
Contact Us
Filters
Showing results (21-30 of 55) with videos related to
Page
of 6
Sort By:
Clinical Genetics
|
October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events
Gali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.
Frontiers in Neurology
|
October 7, 2022
Felbamate for pediatric epilepsy-should we keep on using it as the last resort?
Shira Rabinowicz, Tal Schreiber, Gali Heimer, et al.
Autophagy
|
November 20, 2020
Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2
Milana Fraiberg, Bat-Chen Tamim-Yecheskel, Kamilya Kokabi, et al.
Molecular Genetics and Metabolism Reports
|
September 9, 2020
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
Yuval E Landau, Gali Heimer, Ortal Barel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 23, 2021
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families
Aviva Fattal-Valevski, Liat Ben Sira, Tally Lerman-Sagie, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 28, 2023
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
Christopher Keary, Lynne M Bird, Marie-Claire de Wit, et al.
NPJ Genomic Medicine
|
March 14, 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
Tomer Poleg, Noam Hadar, Gali Heimer, et al.
Neurology
|
January 14, 2021
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome
Lynne M Bird, Cesar Ochoa-Lubinoff, Wen-Hann Tan, et al.
American Journal of Medical Genetics. Part A
|
June 24, 2026
Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype
Michal Bar-Hakim, Anat Abramovich, Sara Via-Dorembus, et al.
Journal of Child Neurology
|
April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene
Gali Heimer, Yair Sadaka, Lori Israelian, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Clinical Genetics
|
October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events
Gali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.
Frontiers in Neurology
|
October 7, 2022
Felbamate for pediatric epilepsy-should we keep on using it as the last resort?
Shira Rabinowicz, Tal Schreiber, Gali Heimer, et al.
Autophagy
|
November 20, 2020
Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2
Milana Fraiberg, Bat-Chen Tamim-Yecheskel, Kamilya Kokabi, et al.
Molecular Genetics and Metabolism Reports
|
September 9, 2020
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
Yuval E Landau, Gali Heimer, Ortal Barel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 23, 2021
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families
Aviva Fattal-Valevski, Liat Ben Sira, Tally Lerman-Sagie, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 28, 2023
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
Christopher Keary, Lynne M Bird, Marie-Claire de Wit, et al.
NPJ Genomic Medicine
|
March 14, 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
Tomer Poleg, Noam Hadar, Gali Heimer, et al.
Neurology
|
January 14, 2021
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome
Lynne M Bird, Cesar Ochoa-Lubinoff, Wen-Hann Tan, et al.
American Journal of Medical Genetics. Part A
|
June 24, 2026
Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype
Michal Bar-Hakim, Anat Abramovich, Sara Via-Dorembus, et al.
Journal of Child Neurology
|
April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene
Gali Heimer, Yair Sadaka, Lori Israelian, et al.
Page
of 6