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Reeval Segel

Showing results (41-50 of 54) with videos related to

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Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
The Journal of Rheumatology|January 15, 2026
The Natural History of DADA2 Vasculitis in a Large Cohort and Factors Associated with Disease-Related DamageDynne-Noya Kind Engelstein, David Levartovsky, Isaiah D Wexler, et al.
Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Journal of Medical Genetics|October 13, 2023
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi JewsRivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, 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.
Neurology. Genetics|August 15, 2017
Brain calcifications and <i>PCDH12</i> variantsGaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
The Journal of Rheumatology|January 15, 2026
The Natural History of DADA2 Vasculitis in a Large Cohort and Factors Associated with Disease-Related DamageDynne-Noya Kind Engelstein, David Levartovsky, Isaiah D Wexler, et al.
Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe diseaseZoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Journal of Medical Genetics|October 13, 2023
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi JewsRivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, 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.
Neurology. Genetics|August 15, 2017
Brain calcifications and <i>PCDH12</i> variantsGaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
Pageof 6