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The Journal of Clinical Endocrinology and Metabolism
|
September 16, 2014
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination
Daniela López-Espíndola, Carmen Morales-Bastos, Carmen Grijota-Martínez, et al.
Journal of Clinical Medicine
|
February 27, 2026
The Clinical, Histological, and Genetic Spectrum of <i>RYR1</i> Variants-A Multi-Center Israeli Cohort Study
Mira Ginsberg, Marina Michelson, Sharon Aharoni, et al.
Neurogenetics
|
February 15, 2014
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, et al.
Neurogenetics
|
March 25, 2014
Reply to: The many faces of TUBB4A mutations
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, et al.
Metabolic Brain Disease
|
May 8, 2021
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology
Ayelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 13, 2014
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings
Ayelet Zerem, Dorit Lev, Lubov Blumkin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 17, 2018
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, et al.
Journal of Medical Genetics
|
March 1, 2014
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
Miora Feinstein, Hagit Flusser, Tally Lerman-Sagie, et al.
Epilepsia
|
March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
Developmental Medicine and Child Neurology
|
August 21, 2025
Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic
Avi Shariv, Michal Gafner, Zvi Leibovitz, et al.
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of 18
Search research articles
Search
Showing results (111-120 of 176) with videos related to
Sort By:
Page
of 18
The Journal of Clinical Endocrinology and Metabolism
|
September 16, 2014
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination
Daniela López-Espíndola, Carmen Morales-Bastos, Carmen Grijota-Martínez, et al.
Journal of Clinical Medicine
|
February 27, 2026
The Clinical, Histological, and Genetic Spectrum of <i>RYR1</i> Variants-A Multi-Center Israeli Cohort Study
Mira Ginsberg, Marina Michelson, Sharon Aharoni, et al.
Neurogenetics
|
February 15, 2014
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, et al.
Neurogenetics
|
March 25, 2014
Reply to: The many faces of TUBB4A mutations
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, et al.
Metabolic Brain Disease
|
May 8, 2021
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology
Ayelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 13, 2014
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings
Ayelet Zerem, Dorit Lev, Lubov Blumkin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 17, 2018
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, et al.
Journal of Medical Genetics
|
March 1, 2014
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
Miora Feinstein, Hagit Flusser, Tally Lerman-Sagie, et al.
Epilepsia
|
March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
Developmental Medicine and Child Neurology
|
August 21, 2025
Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic
Avi Shariv, Michal Gafner, Zvi Leibovitz, et al.
Page
of 18