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Journal of Child Neurology
|
September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation
Rachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 16, 2014
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation
Rachel Straussberg, Esther Ganelin-Cohen, Hadassah Goldberg-Stern, et al.
European Journal of Human Genetics : EJHG
|
June 13, 2019
DEGS1 variant causes neurological disorder
Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45
Rachel Straussberg, Alexandros Onoufriadis, Osnat Konen, et al.
Journal of Neurology
|
August 24, 2014
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia
Ayelet Halevy, Israela Lerer, Rony Cohen, et al.
BMC Medical Genetics
|
August 14, 2016
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, et al.
Plos One
|
July 30, 2013
Variable myopathic presentation in a single family with novel skeletal RYR1 mutation
Ruben Attali, Sharon Aharoni, Susan Treves, et al.
AJNR. American Journal of Neuroradiology
|
August 11, 2005
Thiamine deficiency in infants: MR findings in the brain
Liora Kornreich, Efrat Bron-Harlev, Chen Hoffmann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 7, 2022
Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine
Dekel Avital, Shlomi Peretz, Eliauh Perlow, et al.
American Journal of Human Genetics
|
December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
Ganeshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 85) with videos related to
Sort By:
Page
of 9
Journal of Child Neurology
|
September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation
Rachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 16, 2014
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation
Rachel Straussberg, Esther Ganelin-Cohen, Hadassah Goldberg-Stern, et al.
European Journal of Human Genetics : EJHG
|
June 13, 2019
DEGS1 variant causes neurological disorder
Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45
Rachel Straussberg, Alexandros Onoufriadis, Osnat Konen, et al.
Journal of Neurology
|
August 24, 2014
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia
Ayelet Halevy, Israela Lerer, Rony Cohen, et al.
BMC Medical Genetics
|
August 14, 2016
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, et al.
Plos One
|
July 30, 2013
Variable myopathic presentation in a single family with novel skeletal RYR1 mutation
Ruben Attali, Sharon Aharoni, Susan Treves, et al.
AJNR. American Journal of Neuroradiology
|
August 11, 2005
Thiamine deficiency in infants: MR findings in the brain
Liora Kornreich, Efrat Bron-Harlev, Chen Hoffmann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 7, 2022
Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine
Dekel Avital, Shlomi Peretz, Eliauh Perlow, et al.
American Journal of Human Genetics
|
December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
Ganeshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
Page
of 9