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Ellen Sidransky

Showing results (51-60 of 166) with videos related to

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Movement Disorders Clinical Practice|October 12, 2020
Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case SeriesEmory Ryan, Dominick Amato, Jennifer J MacKenzie, et al.
Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
Molecular Genetics and Metabolism|July 8, 2018
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher diseaseShahzeb Hassan, Grisel Lopez, Barbara K Stubblefield, et al.
American Journal of Medical Genetics. Part A|July 14, 2023
Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variantsEmory Ryan, Nahid Tayebi, Andrea D'Souza, et al.
Molecular Genetics and Metabolism|December 2, 2014
The clinical management of Type 2 Gaucher diseaseKarin Weiss, Ashley Gonzalez, Grisel Lopez, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 28, 2010
Psychiatric and behavioral manifestations of lysosomal storage disordersOrna Staretz-Chacham, Jae Hyuk Choi, Kazuyo Wakabayashi, et al.
Molecular Genetics and Metabolism|January 20, 2004
Glucocerebrosidase mutations in subjects with parkinsonismAlicia Lwin, Eduard Orvisky, Ozlem Goker-Alpan, et al.
The Journal of Molecular Diagnostics : JMD|June 28, 2011
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher diseaseArash Velayati, Melanie A Knight, Barbara K Stubblefield, et al.
Human Mutation|August 12, 2018
Exploring genetic modifiers of Gaucher disease: The next horizonBrad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, et al.
Movement Disorders Clinical Practice|April 6, 2019
First Clinicogenetic Description of Parkinson's Disease Related to <i>GBA</i> Mutation S107LEllen Hertz, Måns Thörnqvist, Björn Holmberg, et al.
Pageof 17

Showing results (51-60 of 166) with videos related to

Sort By:
Pageof 17
Movement Disorders Clinical Practice|October 12, 2020
Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case SeriesEmory Ryan, Dominick Amato, Jennifer J MacKenzie, et al.
Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
Molecular Genetics and Metabolism|July 8, 2018
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher diseaseShahzeb Hassan, Grisel Lopez, Barbara K Stubblefield, et al.
American Journal of Medical Genetics. Part A|July 14, 2023
Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variantsEmory Ryan, Nahid Tayebi, Andrea D'Souza, et al.
Molecular Genetics and Metabolism|December 2, 2014
The clinical management of Type 2 Gaucher diseaseKarin Weiss, Ashley Gonzalez, Grisel Lopez, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 28, 2010
Psychiatric and behavioral manifestations of lysosomal storage disordersOrna Staretz-Chacham, Jae Hyuk Choi, Kazuyo Wakabayashi, et al.
Molecular Genetics and Metabolism|January 20, 2004
Glucocerebrosidase mutations in subjects with parkinsonismAlicia Lwin, Eduard Orvisky, Ozlem Goker-Alpan, et al.
The Journal of Molecular Diagnostics : JMD|June 28, 2011
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher diseaseArash Velayati, Melanie A Knight, Barbara K Stubblefield, et al.
Human Mutation|August 12, 2018
Exploring genetic modifiers of Gaucher disease: The next horizonBrad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, et al.
Movement Disorders Clinical Practice|April 6, 2019
First Clinicogenetic Description of Parkinson's Disease Related to <i>GBA</i> Mutation S107LEllen Hertz, Måns Thörnqvist, Björn Holmberg, et al.
Pageof 17