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Megan T Cho

Showing results (31-40 of 87) with videos related to

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Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.
Patient Education and Counseling|September 16, 2019
Impact of patient education videos on genetic counseling outcomes after exome sequencingRebecca Hernan, Megan T Cho, Ashley L Wilson, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Pageof 9

Showing results (31-40 of 87) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.
Patient Education and Counseling|September 16, 2019
Impact of patient education videos on genetic counseling outcomes after exome sequencingRebecca Hernan, Megan T Cho, Ashley L Wilson, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Pageof 9