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Kyle Retterer

Showing results (31-40 of 59) with videos related to

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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.
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.
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.
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.
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.
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.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor NeuronopathyDavid T Burns, Sandra Donkervoort, Juliane S Müller, et al.
Pageof 6

Showing results (31-40 of 59) with videos related to

Sort By:
Pageof 6
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.
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.
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.
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.
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.
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.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor NeuronopathyDavid T Burns, Sandra Donkervoort, Juliane S Müller, et al.
Pageof 6