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Grace Yoon

Showing results (51-60 of 177) with videos related to

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Brain : a Journal of Neurology|June 28, 2019
Reply: IREB2-associated neurodegenerationNunziata Maio, Manik C Ghosh, Gregory Costain, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresBrian H Y Chung, James Stavropoulos, Christian R Marshall, et al.
Pediatric Cardiology|March 1, 2024
Characterization of Cardiac-Onset Initial Presentation in Friedreich AtaxiaDavid R Lynch, Sub Subramony, Kimberly Y Lin, et al.
Journal of Medical Genetics|August 9, 2019
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studiesMichael Chong, Grace Yoon, Delia Susan-Resiga, et al.
BMJ Case Reports|June 21, 2011
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficitGrace Yoon, Robyn Westmacott, Lynn Macmillan, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|February 3, 2016
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual DisabilityRudaina Banihani, Berivan Baskin, William Halliday, et al.
Neuromuscular Disorders : NMD|July 2, 2023
Titin related myopathy with ophthalmoplegia. A novel phenotypeIssa Alawneh, Kyoko E Yuki, Kimberly Amburgey, et al.
American Journal of Medical Genetics. Part A|December 10, 2015
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial featuresGraeme A M Nimmo, Andrea Guerin, Ramses Badilla-Porras, et al.
Brain : a Journal of Neurology|March 28, 2019
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndromeGregory Costain, Manik C Ghosh, Nunziata Maio, et al.
Neurology. Genetics|November 20, 2019
Homozygous pathogenic variant in <i>BRAT1</i> associated with nonprogressive cerebellar ataxiaAreej Mahjoub, Zuzana Cihlarova, Martine Tétreault, et al.
Pageof 18

Showing results (51-60 of 177) with videos related to

Sort By:
Pageof 18
Brain : a Journal of Neurology|June 28, 2019
Reply: IREB2-associated neurodegenerationNunziata Maio, Manik C Ghosh, Gregory Costain, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresBrian H Y Chung, James Stavropoulos, Christian R Marshall, et al.
Pediatric Cardiology|March 1, 2024
Characterization of Cardiac-Onset Initial Presentation in Friedreich AtaxiaDavid R Lynch, Sub Subramony, Kimberly Y Lin, et al.
Journal of Medical Genetics|August 9, 2019
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studiesMichael Chong, Grace Yoon, Delia Susan-Resiga, et al.
BMJ Case Reports|June 21, 2011
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficitGrace Yoon, Robyn Westmacott, Lynn Macmillan, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|February 3, 2016
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual DisabilityRudaina Banihani, Berivan Baskin, William Halliday, et al.
Neuromuscular Disorders : NMD|July 2, 2023
Titin related myopathy with ophthalmoplegia. A novel phenotypeIssa Alawneh, Kyoko E Yuki, Kimberly Amburgey, et al.
American Journal of Medical Genetics. Part A|December 10, 2015
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial featuresGraeme A M Nimmo, Andrea Guerin, Ramses Badilla-Porras, et al.
Brain : a Journal of Neurology|March 28, 2019
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndromeGregory Costain, Manik C Ghosh, Nunziata Maio, et al.
Neurology. Genetics|November 20, 2019
Homozygous pathogenic variant in <i>BRAT1</i> associated with nonprogressive cerebellar ataxiaAreej Mahjoub, Zuzana Cihlarova, Martine Tétreault, et al.
Pageof 18