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Human Mutation
|
October 19, 2017
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Journal of Medical Genetics
|
July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
Yoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorder
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
Frontiers in Genetics
|
January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
Molecular Genetics and Metabolism
|
August 26, 2019
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation
Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Joseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Scientific Reports
|
September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Brain : a Journal of Neurology
|
April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
Ortal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 85) with videos related to
Sort By:
Page
of 9
Human Mutation
|
October 19, 2017
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Journal of Medical Genetics
|
July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
Yoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorder
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
Frontiers in Genetics
|
January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
Molecular Genetics and Metabolism
|
August 26, 2019
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation
Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Joseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Scientific Reports
|
September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Brain : a Journal of Neurology
|
April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
Ortal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.
Page
of 9