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Journal of Child Neurology
|
January 26, 2010
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia
Ayelet Zerem, Chana Vinkler, Marina Michelson, et al.
Journal of the Neurological Sciences
|
February 14, 2012
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome
Esther Leshinsky-Silver, Daniel Shapira, Keren Yosovitz, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)
|
December 25, 2013
Myotonia in DNM2-related centronuclear myopathy
Ron Dabby, Menachem Sadeh, Ronit Gilad, et al.
Journal of Crohn'S & Colitis
|
December 3, 2010
Granulomas in Crohn's disease: are newly discovered genetic variants involved?
Yoav Mazor, Amir Karban, Shula Nesher, et al.
Journal of the Neurological Sciences
|
November 25, 2010
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene
Ron Dabby, Menachem Sadeh, Ronit Gilad, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 15, 2010
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother
Marina Michelson, Avi Eden, Chana Vinkler, et al.
Molecular Genetics and Metabolism
|
March 6, 2010
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3
Esther Leshinsky-Silver, Dorit Lev, Gustavo Malinger, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 18, 2015
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
Lubov Blumkin, Esther Leshinsky-Silver, Marina Michelson, et al.
Journal of Neurology
|
May 29, 2012
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
Lubov Blumkin, Sara Kivity, Dorit Lev, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 69) with videos related to
Sort By:
Page
of 7
Journal of Child Neurology
|
January 26, 2010
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia
Ayelet Zerem, Chana Vinkler, Marina Michelson, et al.
Journal of the Neurological Sciences
|
February 14, 2012
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome
Esther Leshinsky-Silver, Daniel Shapira, Keren Yosovitz, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)
|
December 25, 2013
Myotonia in DNM2-related centronuclear myopathy
Ron Dabby, Menachem Sadeh, Ronit Gilad, et al.
Journal of Crohn'S & Colitis
|
December 3, 2010
Granulomas in Crohn's disease: are newly discovered genetic variants involved?
Yoav Mazor, Amir Karban, Shula Nesher, et al.
Journal of the Neurological Sciences
|
November 25, 2010
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene
Ron Dabby, Menachem Sadeh, Ronit Gilad, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 15, 2010
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother
Marina Michelson, Avi Eden, Chana Vinkler, et al.
Molecular Genetics and Metabolism
|
March 6, 2010
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3
Esther Leshinsky-Silver, Dorit Lev, Gustavo Malinger, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 18, 2015
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
Lubov Blumkin, Esther Leshinsky-Silver, Marina Michelson, et al.
Journal of Neurology
|
May 29, 2012
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
Lubov Blumkin, Sara Kivity, Dorit Lev, et al.
Page
of 7