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Tiffany Busa

Showing results (31-40 of 74) with videos related to

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European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
European Journal of Medical Genetics|July 18, 2021
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA studyPierre-Henri Roux-Levy, Damien Sanlaville, Bénédicte De Freminville, et al.
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
Journal of Medical Genetics|September 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesQuentin Testard, Xavier Vanhoye, Kevin Yauy, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
European Journal of Medical Genetics|July 18, 2021
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA studyPierre-Henri Roux-Levy, Damien Sanlaville, Bénédicte De Freminville, et al.
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
Journal of Medical Genetics|September 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesQuentin Testard, Xavier Vanhoye, Kevin Yauy, et al.
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