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Violet Gelowani

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

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Methodsx|February 11, 2016
Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approachMohammad Haeri, Violet Gelowani, Arthur L Beaudet
American Journal of Medical Genetics. Part A|December 7, 2013
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndromePilar L Magoulas, Pengfei Liu, Violet Gelowani, et al.
BMC Bioinformatics|March 4, 2017
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing dataYong Chen, Li Zhao, Yi Wang, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular InvolvementMingchu Xu, Violet Gelowani, Aiden Eblimit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2014
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsJacques Zaneveld, Sorath Siddiqui, Huajin Li, et al.
American Journal of Human Genetics|February 18, 2014
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplicationPengfei Liu, Violet Gelowani, Feng Zhang, et al.
American Journal of Human Genetics|November 7, 2015
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication SyndromeBo Yuan, Tamar Harel, Shen Gu, et al.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Pageof 1

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

Sort By:
Pageof 1
Methodsx|February 11, 2016
Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approachMohammad Haeri, Violet Gelowani, Arthur L Beaudet
American Journal of Medical Genetics. Part A|December 7, 2013
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndromePilar L Magoulas, Pengfei Liu, Violet Gelowani, et al.
BMC Bioinformatics|March 4, 2017
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing dataYong Chen, Li Zhao, Yi Wang, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular InvolvementMingchu Xu, Violet Gelowani, Aiden Eblimit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2014
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsJacques Zaneveld, Sorath Siddiqui, Huajin Li, et al.
American Journal of Human Genetics|February 18, 2014
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplicationPengfei Liu, Violet Gelowani, Feng Zhang, et al.
American Journal of Human Genetics|November 7, 2015
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication SyndromeBo Yuan, Tamar Harel, Shen Gu, et al.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Pageof 1