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Jennifer Goldstein

Showing results (21-30 of 32) with videos related to

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Molecular Genetics and Metabolism|September 12, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseasesMatheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2015
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2019
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Priya S Kishnani, Jennifer Goldstein, Stephanie L Austin, et al.
Medrxiv : the Preprint Server for Health Sciences|August 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Molecular Genetics and Metabolism|October 19, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Metabolic Brain Disease|February 14, 2018
Treatment outcome of creatine transporter deficiency: international retrospective cohort studyTheodora U J Bruun, Sarah Sidky, Anabela O Bandeira, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|September 12, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseasesMatheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2015
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2019
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Priya S Kishnani, Jennifer Goldstein, Stephanie L Austin, et al.
Medrxiv : the Preprint Server for Health Sciences|August 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Molecular Genetics and Metabolism|October 19, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Metabolic Brain Disease|February 14, 2018
Treatment outcome of creatine transporter deficiency: international retrospective cohort studyTheodora U J Bruun, Sarah Sidky, Anabela O Bandeira, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Pageof 4