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Simranpreet Kaur

Showing results (61-70 of 72) with videos related to

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Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 2, 2021
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, et al.
International Journal of Molecular Sciences|October 14, 2023
Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer's DiseaseArtur Shvetcov, Shannon Thomson, Jessica Spathos, et al.
Cell Reports|November 24, 2021
Fragmentation of tissue-resident macrophages during isolation confounds analysis of single-cell preparations from mouse hematopoietic tissuesSusan M Millard, Ostyn Heng, Khatora S Opperman, et al.
Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.
Emerging Microbes & Infections|June 9, 2016
Presence of a widely disseminated Listeria monocytogenes serotype 4b clone in IndiaSukhadeo B Barbuddhe, Swapnil P Doijad, Alexander Goesmann, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 2, 2021
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, et al.
International Journal of Molecular Sciences|October 14, 2023
Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer's DiseaseArtur Shvetcov, Shannon Thomson, Jessica Spathos, et al.
Cell Reports|November 24, 2021
Fragmentation of tissue-resident macrophages during isolation confounds analysis of single-cell preparations from mouse hematopoietic tissuesSusan M Millard, Ostyn Heng, Khatora S Opperman, et al.
Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.
Emerging Microbes & Infections|June 9, 2016
Presence of a widely disseminated Listeria monocytogenes serotype 4b clone in IndiaSukhadeo B Barbuddhe, Swapnil P Doijad, Alexander Goesmann, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Pageof 8