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Children (Basel, Switzerland)
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July 29, 2023
High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome
Jacob Genizi, Lotan Berger, Muhammad Mahajnah, et al.
Frontiers in Pediatrics
|
June 1, 2026
Long-term headaches in children with idiopathic intracranial hypertension-a 10 years follow-up
Jacob Genizi, Moran Cymbrowicz, Lilach Shemer-Meiri, et al.
EMBO Molecular Medicine
|
July 16, 2021
Modeling genetic epileptic encephalopathies using brain organoids
Daniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, et al.
American Journal of Human Genetics
|
November 5, 2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
Alina Kurolap, Anja Armbruster, Tova Hershkovitz, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.
European Journal of Human Genetics : EJHG
|
May 29, 2021
Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Holger Hengel, Rebecca Buchert, Marc Sturm, et al.
European Journal of Human Genetics : EJHG
|
March 28, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Holger Hengel, Rebecca Buchert, Marc Sturm, et al.
Brain : a Journal of Neurology
|
April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Anja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
Rajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Brain : a Journal of Neurology
|
December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
Martial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Children (Basel, Switzerland)
|
July 29, 2023
High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome
Jacob Genizi, Lotan Berger, Muhammad Mahajnah, et al.
Frontiers in Pediatrics
|
June 1, 2026
Long-term headaches in children with idiopathic intracranial hypertension-a 10 years follow-up
Jacob Genizi, Moran Cymbrowicz, Lilach Shemer-Meiri, et al.
EMBO Molecular Medicine
|
July 16, 2021
Modeling genetic epileptic encephalopathies using brain organoids
Daniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, et al.
American Journal of Human Genetics
|
November 5, 2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
Alina Kurolap, Anja Armbruster, Tova Hershkovitz, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.
European Journal of Human Genetics : EJHG
|
May 29, 2021
Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Holger Hengel, Rebecca Buchert, Marc Sturm, et al.
European Journal of Human Genetics : EJHG
|
March 28, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Holger Hengel, Rebecca Buchert, Marc Sturm, et al.
Brain : a Journal of Neurology
|
April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Anja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
Rajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Brain : a Journal of Neurology
|
December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
Martial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Page
of 6