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Amber Boys

Showing results (1-10 of 17) with videos related to

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European Journal of Medical Genetics|January 27, 2019
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variantsMathew J Wallis, Amber Boys, Elisa Tassano, et al.
Plos Genetics|December 16, 2016
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like SyndromeDamien F Hudson, David J Amor, Amber Boys, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman, Sonya Bacic, Amber Boys, et al.
Epilepsia|December 22, 2017
ADGRV1 is implicated in myoclonic epilepsyKenneth A Myers, Steven Nasioulas, Amber Boys, et al.
European Journal of Human Genetics : EJHG|February 16, 2018
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletionCristina Mei, Evelina Fedorenko, David J Amor, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 26, 2018
Characterization of speech and language phenotype in children with NRXN1 deletionsAmanda Brignell, Miya St John, Amber Boys, et al.
Human Mutation|April 16, 2005
BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpointsHua Ren, Wendy Francis, Amber Boys, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Brain : a Journal of Neurology|February 24, 2019
Dorsal language stream anomalies in an inherited speech disorderFrédérique J Liégeois, Samantha J Turner, Angela Mayes, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
European Journal of Medical Genetics|January 27, 2019
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variantsMathew J Wallis, Amber Boys, Elisa Tassano, et al.
Plos Genetics|December 16, 2016
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like SyndromeDamien F Hudson, David J Amor, Amber Boys, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman, Sonya Bacic, Amber Boys, et al.
Epilepsia|December 22, 2017
ADGRV1 is implicated in myoclonic epilepsyKenneth A Myers, Steven Nasioulas, Amber Boys, et al.
European Journal of Human Genetics : EJHG|February 16, 2018
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletionCristina Mei, Evelina Fedorenko, David J Amor, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 26, 2018
Characterization of speech and language phenotype in children with NRXN1 deletionsAmanda Brignell, Miya St John, Amber Boys, et al.
Human Mutation|April 16, 2005
BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpointsHua Ren, Wendy Francis, Amber Boys, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Brain : a Journal of Neurology|February 24, 2019
Dorsal language stream anomalies in an inherited speech disorderFrédérique J Liégeois, Samantha J Turner, Angela Mayes, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Pageof 2