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Julie Steffann

Showing results (61-70 of 71) with videos related to

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Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Epilepsia Open|May 10, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsiesGiulia Barcia, Nicole Chemaly, Stéphanie Gobin-Limballe, et al.
Human Mutation|December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
Science Translational Medicine|August 27, 2025
Immune response and clinical severity are shaped by skin-adapted <i>Staphylococcus aureus</i> in chronically infected patientsAnne Jamet, Xiali Fu, Céline Dietrich, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 25, 2025
First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF studyAnne-Sophie Bonnel, Tiphaine Bihouée, Mélanie Ribault, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
Stem Cell Reports|May 28, 2021
ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 updateRobin Lovell-Badge, Eric Anthony, Roger A Barker, et al.
Journal of Medical Genetics|February 5, 2013
CFTR p.Arg117His associated with CBAVD and other CFTR-related disordersChristel Thauvin-Robinet, Anne Munck, Frédéric Huet, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
The Journal of Experimental Medicine|October 1, 2024
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseasesJérémie Rosain, Tom Le Voyer, Xian Liu, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Epilepsia Open|May 10, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsiesGiulia Barcia, Nicole Chemaly, Stéphanie Gobin-Limballe, et al.
Human Mutation|December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
Science Translational Medicine|August 27, 2025
Immune response and clinical severity are shaped by skin-adapted <i>Staphylococcus aureus</i> in chronically infected patientsAnne Jamet, Xiali Fu, Céline Dietrich, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 25, 2025
First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF studyAnne-Sophie Bonnel, Tiphaine Bihouée, Mélanie Ribault, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
Stem Cell Reports|May 28, 2021
ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 updateRobin Lovell-Badge, Eric Anthony, Roger A Barker, et al.
Journal of Medical Genetics|February 5, 2013
CFTR p.Arg117His associated with CBAVD and other CFTR-related disordersChristel Thauvin-Robinet, Anne Munck, Frédéric Huet, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
The Journal of Experimental Medicine|October 1, 2024
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseasesJérémie Rosain, Tom Le Voyer, Xian Liu, et al.
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