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Ben Pode-Shakked

Showing results (71-80 of 85) with videos related to

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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.
Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Nature|June 21, 2019
Noncoding deletions reveal a gene that is critical for intestinal functionDanit Oz-Levi, Tsviya Olender, Ifat Bar-Joseph, et al.
American Journal of Human Genetics|March 3, 2023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
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.
Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Nature|June 21, 2019
Noncoding deletions reveal a gene that is critical for intestinal functionDanit Oz-Levi, Tsviya Olender, Ifat Bar-Joseph, et al.
American Journal of Human Genetics|March 3, 2023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Pageof 9