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Neurology
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August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
American Journal of Human Genetics
|
March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
Xiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
The Journal of Clinical Investigation
|
August 2, 2012
Targets of antibodies against Plasmodium falciparum-infected erythrocytes in malaria immunity
Jo-Anne Chan, Katherine B Howell, Linda Reiling, et al.
Journal of Paediatrics and Child Health
|
June 5, 2013
High resolution chromosomal microarray in undiagnosed neurological disorders
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, et al.
Cellular and Molecular Life Sciences : CMLS
|
May 20, 2016
A single point in protein trafficking by Plasmodium falciparum determines the expression of major antigens on the surface of infected erythrocytes targeted by human antibodies
Jo-Anne Chan, Katherine B Howell, Christine Langer, et al.
Neurology. Genetics
|
April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathy
Gemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
American Journal of Human Genetics
|
March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
Tiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
May 13, 2026
Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders
Natalie Y Lim, Christian E Meagher, Ann Bye, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2015
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
Isabel Marques, Maria João Sá, Gabriela Soares, et al.
Epilepsia Open
|
August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 65) with videos related to
Sort By:
Page
of 7
Neurology
|
August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
American Journal of Human Genetics
|
March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
Xiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
The Journal of Clinical Investigation
|
August 2, 2012
Targets of antibodies against Plasmodium falciparum-infected erythrocytes in malaria immunity
Jo-Anne Chan, Katherine B Howell, Linda Reiling, et al.
Journal of Paediatrics and Child Health
|
June 5, 2013
High resolution chromosomal microarray in undiagnosed neurological disorders
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, et al.
Cellular and Molecular Life Sciences : CMLS
|
May 20, 2016
A single point in protein trafficking by Plasmodium falciparum determines the expression of major antigens on the surface of infected erythrocytes targeted by human antibodies
Jo-Anne Chan, Katherine B Howell, Christine Langer, et al.
Neurology. Genetics
|
April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathy
Gemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
American Journal of Human Genetics
|
March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
Tiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
May 13, 2026
Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders
Natalie Y Lim, Christian E Meagher, Ann Bye, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2015
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
Isabel Marques, Maria João Sá, Gabriela Soares, et al.
Epilepsia Open
|
August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Page
of 7