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Showing results (141-150 of 153) with videos related to

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Orphanet Journal of Rare Diseases|March 21, 2026
Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension studyMyrl Holida, Aleš Linhart, Nicola Longo, et al.
Journal of Inherited Metabolic Disease|October 9, 2024
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapiesMyrl Holida, Aleš Linhart, Antonio Pisani, et al.
Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.
Pediatric Research|October 17, 2019
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencingMark N Ziats, Ayesha Ahmad, John A Bernat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2025
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 studyYaz Y Kisanuki, Paulo R Nobrega, Ryan Himes, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
Pageof 16

Showing results (141-150 of 153) with videos related to

Sort By:
Pageof 16
Orphanet Journal of Rare Diseases|March 21, 2026
Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension studyMyrl Holida, Aleš Linhart, Nicola Longo, et al.
Journal of Inherited Metabolic Disease|October 9, 2024
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapiesMyrl Holida, Aleš Linhart, Antonio Pisani, et al.
Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.
Pediatric Research|October 17, 2019
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencingMark N Ziats, Ayesha Ahmad, John A Bernat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2025
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 studyYaz Y Kisanuki, Paulo R Nobrega, Ryan Himes, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
Pageof 16