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Tiffany Busa

Showing results (11-20 of 74) with videos related to

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Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.
American Journal of Medical Genetics. Part A|May 4, 2019
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literaturePerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Journal of Clinical Medicine|July 14, 2023
In Marfan Syndrome and Related Diseases, STABILISE Technique Should Be Used with Care: Results from a Volumetric Comparative Study of Endovascular Treatment for Aortic DissectionRon Azogui, Alizee Porto, Maxime Castelli, et al.
Genes|July 27, 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, et al.
European Journal of Medical Genetics|February 21, 2022
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patientsJulie Masson, Linda Pons, Tiffany Busa, et al.
Journal of Clinical Medicine|November 11, 2022
Endovascular Management of Vascular Complications in Ehlers-Danlos Syndrome Type IVMubarak Alqahtani, Amandine Claudinot, Marine Gaudry, et al.
American Journal of Medical Genetics. Part A|May 13, 2014
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesCécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, et al.
European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.
Journal of Medical Genetics|October 2, 2024
Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretationHenri Margot, Natalie Jones, Thibaut Matis, et al.
Pageof 8

Showing results (11-20 of 74) with videos related to

Sort By:
Pageof 8
Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.
American Journal of Medical Genetics. Part A|May 4, 2019
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literaturePerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Journal of Clinical Medicine|July 14, 2023
In Marfan Syndrome and Related Diseases, STABILISE Technique Should Be Used with Care: Results from a Volumetric Comparative Study of Endovascular Treatment for Aortic DissectionRon Azogui, Alizee Porto, Maxime Castelli, et al.
Genes|July 27, 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, et al.
European Journal of Medical Genetics|February 21, 2022
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patientsJulie Masson, Linda Pons, Tiffany Busa, et al.
Journal of Clinical Medicine|November 11, 2022
Endovascular Management of Vascular Complications in Ehlers-Danlos Syndrome Type IVMubarak Alqahtani, Amandine Claudinot, Marine Gaudry, et al.
American Journal of Medical Genetics. Part A|May 13, 2014
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesCécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, et al.
European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.
Journal of Medical Genetics|October 2, 2024
Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretationHenri Margot, Natalie Jones, Thibaut Matis, et al.
Pageof 8