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Megan T Cho

Showing results (11-20 of 87) with videos related to

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Journal of Medical Genetics|October 17, 2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathyAnnalisa G Sega, Emily K Mis, Kristin Lindstrom, et al.
Journal of Genetic Counseling|September 24, 2020
Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task forceLeigha Senter, Jehannine C Austin, Meghan Carey, et al.
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic featuresGanka Douglas, Megan T Cho, Aida Telegrafi, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
Journal of Medical Genetics|July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathyWendy K Chung, Kimberly Martin, Chaim Jalas, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
Pageof 9

Showing results (11-20 of 87) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|October 17, 2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathyAnnalisa G Sega, Emily K Mis, Kristin Lindstrom, et al.
Journal of Genetic Counseling|September 24, 2020
Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task forceLeigha Senter, Jehannine C Austin, Meghan Carey, et al.
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic featuresGanka Douglas, Megan T Cho, Aida Telegrafi, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
Journal of Medical Genetics|July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathyWendy K Chung, Kimberly Martin, Chaim Jalas, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
Pageof 9