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Aviva Eliyahu

Showing results (1-10 of 22) with videos related to

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Harefuah|December 27, 2021
[THE GENETIC BASIS OF CHRONIC KIDNEY DISEASE IN CHILDREN AND YOUNG ADULTS]Maayan Kagan, Aviva Eliyahu, Yishay Ben Moshe, et al.
Pediatric Dermatology|April 7, 2023
White epidermal nevus as an early sign of tuberous sclerosis complex-A case seriesAyelet Ollech, Daniel Hilewitz, Michal Tzadok, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, et al.
BMC Medical Genetics|March 30, 2019
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literatureBen Pode-Shakked, Asaf Vivante, Ortal Barel, et al.
Genes|March 28, 2026
Broadening the Phenotypic Spectrum of <i>MAFB</i>-Related Disease: Renal, Auricular, Ocular, and Nervous System InvolvementAviva Eliyahu, Danit Atias-Varon, Ortal Barel, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
Journal of the Neurological Sciences|July 5, 2024
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world settingNoga Lempel, Shahar Shelly, Odelia Chorin, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
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 deficiencyMay Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Harefuah|December 27, 2021
[THE GENETIC BASIS OF CHRONIC KIDNEY DISEASE IN CHILDREN AND YOUNG ADULTS]Maayan Kagan, Aviva Eliyahu, Yishay Ben Moshe, et al.
Pediatric Dermatology|April 7, 2023
White epidermal nevus as an early sign of tuberous sclerosis complex-A case seriesAyelet Ollech, Daniel Hilewitz, Michal Tzadok, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)Dina Marek-Yagel, Aviva Eliyahu, Alvit Veber, et al.
BMC Medical Genetics|March 30, 2019
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literatureBen Pode-Shakked, Asaf Vivante, Ortal Barel, et al.
Genes|March 28, 2026
Broadening the Phenotypic Spectrum of <i>MAFB</i>-Related Disease: Renal, Auricular, Ocular, and Nervous System InvolvementAviva Eliyahu, Danit Atias-Varon, Ortal Barel, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
Journal of the Neurological Sciences|July 5, 2024
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world settingNoga Lempel, Shahar Shelly, Odelia Chorin, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
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 deficiencyMay Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.
Pageof 3