Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Esther Meyer

Showing results (21-30 of 61) with videos related to

Pageof 7
Sort By:
American Journal of Medical Genetics. Part A|February 22, 2005
Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14qThomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, et al.
Developmental Medicine and Child Neurology|April 2, 2014
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumAdeline Ngoh, Amy McTague, Ingrid M Wentzensen, et al.
Molecular Vision|May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataractEsther Meyer, Fatimah Rahman, Jessica Owens, et al.
Plos Genetics|March 21, 2009
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)Esther Meyer, Derek Lim, Shanaz Pasha, et al.
Molecular Vision|April 21, 2010
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathyEsther Meyer, Michel Michaelides, Louise J Tee, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|April 22, 2017
<i>TBC1D24</i> Mutations in a Sibship with Multifocal PolymyoclonusAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Genes, Chromosomes & Cancer|April 2, 2011
Copy number profiling in von Hippel-Lindau disease renal cell carcinomaSalwati Shuib, Wenbin Wei, Hariom Sur, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Epilepsia|April 11, 2016
RARS2 mutations in a sibship with infantile spasmsAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 1, 2018
Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonismHugo Morales-Briceño, Beatriz E Sanchez-Hernandez, Esther Meyer, et al.
Pageof 7

Showing results (21-30 of 61) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|February 22, 2005
Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14qThomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, et al.
Developmental Medicine and Child Neurology|April 2, 2014
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumAdeline Ngoh, Amy McTague, Ingrid M Wentzensen, et al.
Molecular Vision|May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataractEsther Meyer, Fatimah Rahman, Jessica Owens, et al.
Plos Genetics|March 21, 2009
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)Esther Meyer, Derek Lim, Shanaz Pasha, et al.
Molecular Vision|April 21, 2010
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathyEsther Meyer, Michel Michaelides, Louise J Tee, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|April 22, 2017
<i>TBC1D24</i> Mutations in a Sibship with Multifocal PolymyoclonusAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Genes, Chromosomes & Cancer|April 2, 2011
Copy number profiling in von Hippel-Lindau disease renal cell carcinomaSalwati Shuib, Wenbin Wei, Hariom Sur, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Epilepsia|April 11, 2016
RARS2 mutations in a sibship with infantile spasmsAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 1, 2018
Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonismHugo Morales-Briceño, Beatriz E Sanchez-Hernandez, Esther Meyer, et al.
Pageof 7