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Joshua J Baker

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

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Current Opinion in Endocrinology, Diabetes, and Obesity|December 3, 2019
Recent developments in fetal alcohol spectrum disorderJoshua J Baker, Joan M Stoler
Touchreviews in Endocrinology|February 4, 2022
Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A ReviewJoshua J Baker, Barbara K Burton
Molecular Genetics and Metabolism Reports|September 1, 2022
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower dosesErika R Vucko, Kirsten E Havens, Joshua J Baker, et al.
American Journal of Medical Genetics. Part A|May 9, 2024
Aminotransferase trends in propionic acidemiaMaria P Silva, Carolyn R Raski, Joel Charrow, et al.
Molecular Genetics and Metabolism|November 24, 2023
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher diseaseCarly A Rasmussen, Allegra Quadri, Erika Vucko, et al.
Pediatric Research|January 18, 2024
Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotypeSusan M Slattery, James Wilkinson, Angeli Mittal, et al.
Journal of Inherited Metabolic Disease|July 27, 2020
A retrospective study of adult patients with noncirrhotic hyperammonemiaAndrew B Stergachis, Kris M Mogensen, Charbel C Khoury, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 1

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

Sort By:
Pageof 1
Current Opinion in Endocrinology, Diabetes, and Obesity|December 3, 2019
Recent developments in fetal alcohol spectrum disorderJoshua J Baker, Joan M Stoler
Touchreviews in Endocrinology|February 4, 2022
Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A ReviewJoshua J Baker, Barbara K Burton
Molecular Genetics and Metabolism Reports|September 1, 2022
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower dosesErika R Vucko, Kirsten E Havens, Joshua J Baker, et al.
American Journal of Medical Genetics. Part A|May 9, 2024
Aminotransferase trends in propionic acidemiaMaria P Silva, Carolyn R Raski, Joel Charrow, et al.
Molecular Genetics and Metabolism|November 24, 2023
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher diseaseCarly A Rasmussen, Allegra Quadri, Erika Vucko, et al.
Pediatric Research|January 18, 2024
Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotypeSusan M Slattery, James Wilkinson, Angeli Mittal, et al.
Journal of Inherited Metabolic Disease|July 27, 2020
A retrospective study of adult patients with noncirrhotic hyperammonemiaAndrew B Stergachis, Kris M Mogensen, Charbel C Khoury, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 1