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Megan T Cho

Showing results (21-30 of 87) with videos related to

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American Journal of Human Genetics|June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsLia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Human Genetics|April 7, 2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresVolkan Okur, Megan T Cho, Lindsay Henderson, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Pageof 9

Showing results (21-30 of 87) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsLia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Human Genetics|April 7, 2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresVolkan Okur, Megan T Cho, Lindsay Henderson, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Pageof 9