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Sandeep Jayawant

Showing results (21-30 of 50) with videos related to

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The Pediatric Infectious Disease Journal|August 30, 2014
H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 geneGeetha Anand, Ravindran Visagan, Saleel Chandratre, et al.
Developmental Medicine and Child Neurology|March 18, 2014
Infantile neuroaxonal dystrophy caused by uniparental disomyJoyce Solomons, Oliver Ridgway, Carol Hardy, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2015
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 familiesAndreas Brunklaus, Rachael Ellis, Helen Stewart, et al.
Human Mutation|November 26, 2019
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structurePedro M Rodríguez Cruz, Judith Cossins, Jonathan Cheung, et al.
Neurology. Genetics|August 16, 2018
De novo <i>DNM1L</i> mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, et al.
Mitochondrion|November 6, 2007
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletionKarl J Morten, Neil Ashley, Frits Wijburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2022
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related DisorderFrancesca Magrinelli, Clarissa Rocca, Roberto Simone, et al.
JAMA Neurology|April 21, 2015
Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia GravisPedro M Rodríguez Cruz, Michal Al-Hajjar, Saif Huda, et al.
Neuromuscular Disorders : NMD|February 1, 2020
Paediatric myasthenia gravis: Prognostic factors for drug free remissionDomizia Vecchio, Sithara Ramdas, Pinki Munot, et al.
Developmental Medicine and Child Neurology|June 9, 2011
Milder phenotypes of glucose transporter type 1 deficiency syndromeGeetha Anand, Anuruddha Padeniya, Donncha Hanrahan, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
The Pediatric Infectious Disease Journal|August 30, 2014
H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 geneGeetha Anand, Ravindran Visagan, Saleel Chandratre, et al.
Developmental Medicine and Child Neurology|March 18, 2014
Infantile neuroaxonal dystrophy caused by uniparental disomyJoyce Solomons, Oliver Ridgway, Carol Hardy, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2015
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 familiesAndreas Brunklaus, Rachael Ellis, Helen Stewart, et al.
Human Mutation|November 26, 2019
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structurePedro M Rodríguez Cruz, Judith Cossins, Jonathan Cheung, et al.
Neurology. Genetics|August 16, 2018
De novo <i>DNM1L</i> mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, et al.
Mitochondrion|November 6, 2007
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletionKarl J Morten, Neil Ashley, Frits Wijburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2022
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related DisorderFrancesca Magrinelli, Clarissa Rocca, Roberto Simone, et al.
JAMA Neurology|April 21, 2015
Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia GravisPedro M Rodríguez Cruz, Michal Al-Hajjar, Saif Huda, et al.
Neuromuscular Disorders : NMD|February 1, 2020
Paediatric myasthenia gravis: Prognostic factors for drug free remissionDomizia Vecchio, Sithara Ramdas, Pinki Munot, et al.
Developmental Medicine and Child Neurology|June 9, 2011
Milder phenotypes of glucose transporter type 1 deficiency syndromeGeetha Anand, Anuruddha Padeniya, Donncha Hanrahan, et al.
Pageof 5