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Isabelle Thiffault

Showing results (81-90 of 139) with videos related to

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European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
The Lancet. Respiratory Medicine|May 5, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findingsLaurel K Willig, Josh E Petrikin, Laurie D Smith, et al.
Nature Communications|May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohortWarren A Cheung, Adam F Johnson, William J Rowell, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
The Journal of Experimental Medicine|May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humansVictoria E Rael, Julian A Yano, John P Huizar, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Pageof 14

Showing results (81-90 of 139) with videos related to

Sort By:
Pageof 14
European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
The Lancet. Respiratory Medicine|May 5, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findingsLaurel K Willig, Josh E Petrikin, Laurie D Smith, et al.
Nature Communications|May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohortWarren A Cheung, Adam F Johnson, William J Rowell, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.
The Journal of Experimental Medicine|May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humansVictoria E Rael, Julian A Yano, John P Huizar, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Pageof 14