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Elon Pras

Showing results (81-90 of 103) with videos related to

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Human Genetics|July 25, 2012
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemiaIfat Bar-joseph, Elon Pras, Haike Reznik-Wolf, et al.
Journal of the American Society of Nephrology : JASN|September 20, 2002
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classificationLuca Dello Strologo, Elon Pras, Claudia Pontesilli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, 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 Medical Genetics|May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insightsAdi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.
Nature Genetics|May 20, 2003
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinEtgar Levy-Nissenbaum, Regina C Betz, Moshe Frydman, et al.
Journal of Medical Genetics|January 15, 2018
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi JewsMartin De Boer, Ronit Gavrieli, Karin van Leeuwen, 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.
American Journal of Human Genetics|November 27, 2012
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesisDanit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, et al.
European Journal of Neurology|January 29, 2025
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical CharacteristicsAmir Dori, Odelia Chorin, Noa Ruhrman-Shahar, et al.
Pageof 11

Showing results (81-90 of 103) with videos related to

Sort By:
Pageof 11
Human Genetics|July 25, 2012
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemiaIfat Bar-joseph, Elon Pras, Haike Reznik-Wolf, et al.
Journal of the American Society of Nephrology : JASN|September 20, 2002
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classificationLuca Dello Strologo, Elon Pras, Claudia Pontesilli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, 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 Medical Genetics|May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insightsAdi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.
Nature Genetics|May 20, 2003
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinEtgar Levy-Nissenbaum, Regina C Betz, Moshe Frydman, et al.
Journal of Medical Genetics|January 15, 2018
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi JewsMartin De Boer, Ronit Gavrieli, Karin van Leeuwen, 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.
American Journal of Human Genetics|November 27, 2012
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesisDanit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, et al.
European Journal of Neurology|January 29, 2025
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical CharacteristicsAmir Dori, Odelia Chorin, Noa Ruhrman-Shahar, et al.
Pageof 11