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Virginia P Sybert

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

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Heart (British Cardiac Society)|July 17, 2020
Cardiovascular outcomes of pregnancy in Turner syndromeJasmine Grewal, Anne Marie Valente, Alexander C Egbe, et al.
Journal of the American Academy of Dermatology|August 16, 2011
Folliculocystic and collagen hamartoma of tuberous sclerosis complexAntonio Torrelo, Smail Hadj-Rabia, Isabel Colmenero, et al.
Human Mutation|July 31, 2010
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2Emmelien Aten, Lisa C Brasz, Dorothea Bornholdt, et al.
American Journal of Medical Genetics. Part A|February 1, 2019
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathwayJohn Timothy Wright, Mary Fete, Holm Schneider, et al.
American Journal of Human Genetics|March 10, 2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid P Kelsell, Elizabeth E Norgett, Harriet Unsworth, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Genome Research|February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.
Pageof 3

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

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Heart (British Cardiac Society)|July 17, 2020
Cardiovascular outcomes of pregnancy in Turner syndromeJasmine Grewal, Anne Marie Valente, Alexander C Egbe, et al.
Journal of the American Academy of Dermatology|August 16, 2011
Folliculocystic and collagen hamartoma of tuberous sclerosis complexAntonio Torrelo, Smail Hadj-Rabia, Isabel Colmenero, et al.
Human Mutation|July 31, 2010
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2Emmelien Aten, Lisa C Brasz, Dorothea Bornholdt, et al.
American Journal of Medical Genetics. Part A|February 1, 2019
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathwayJohn Timothy Wright, Mary Fete, Holm Schneider, et al.
American Journal of Human Genetics|March 10, 2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid P Kelsell, Elizabeth E Norgett, Harriet Unsworth, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Genome Research|February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.
Pageof 3