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Nicolas Garcelon

Showing results (101-110 of 124) with videos related to

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Genome Medicine|March 25, 2026
COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohortsAntoine Favier, Stefania Chounta, Alejandro Garcia, et al.
Kidney International|May 25, 2023
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathiesFriederike Petzold, Katy Billot, Xiaoyi Chen, et al.
Frontiers in Immunology|July 26, 2024
Charting a course for global progress in PIDs by 2030 - proceedings from the IPOPI global multi-stakeholders' summit (September 2023)Samya Van Coillie, Johan Prévot, Silvia Sánchez-Ramón, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|December 21, 2020
Arterial abnormalities identified in kidneys transplanted into children during the COVID-19 pandemicLaureline Berteloot, Romain Berthaud, Sarah Temmam, et al.
The Journal of Pediatrics|May 11, 2023
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort StudyMichaela Semeraro, Cyrielle Fouquet, Yoann Vial, et al.
Journal of Neurosurgery. Pediatrics|January 1, 2021
Etiology of intracerebral hemorrhage in children: cohort study, systematic review, and meta-analysisGrégoire Boulouis, Sarah Stricker, Sandro Benichi, et al.
Plos One|October 27, 2018
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindredsFabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|August 26, 2024
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostosesQuentin Hennocq, Giovanna Paternoster, Corinne Collet, et al.
Human Mutation|November 15, 2013
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrumKarim Bouchireb, Olivia Boyer, Olivier Gribouval, et al.
Kidney International Reports|April 30, 2025
Genotype-Phenotype Correlations in Denys-Drash Syndrome in ChildrenMathilde Glénisson, Mathilde Grapin, Thomas Blanc, et al.
Pageof 13

Showing results (101-110 of 124) with videos related to

Sort By:
Pageof 13
Genome Medicine|March 25, 2026
COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohortsAntoine Favier, Stefania Chounta, Alejandro Garcia, et al.
Kidney International|May 25, 2023
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathiesFriederike Petzold, Katy Billot, Xiaoyi Chen, et al.
Frontiers in Immunology|July 26, 2024
Charting a course for global progress in PIDs by 2030 - proceedings from the IPOPI global multi-stakeholders' summit (September 2023)Samya Van Coillie, Johan Prévot, Silvia Sánchez-Ramón, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|December 21, 2020
Arterial abnormalities identified in kidneys transplanted into children during the COVID-19 pandemicLaureline Berteloot, Romain Berthaud, Sarah Temmam, et al.
The Journal of Pediatrics|May 11, 2023
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort StudyMichaela Semeraro, Cyrielle Fouquet, Yoann Vial, et al.
Journal of Neurosurgery. Pediatrics|January 1, 2021
Etiology of intracerebral hemorrhage in children: cohort study, systematic review, and meta-analysisGrégoire Boulouis, Sarah Stricker, Sandro Benichi, et al.
Plos One|October 27, 2018
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindredsFabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|August 26, 2024
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostosesQuentin Hennocq, Giovanna Paternoster, Corinne Collet, et al.
Human Mutation|November 15, 2013
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrumKarim Bouchireb, Olivia Boyer, Olivier Gribouval, et al.
Kidney International Reports|April 30, 2025
Genotype-Phenotype Correlations in Denys-Drash Syndrome in ChildrenMathilde Glénisson, Mathilde Grapin, Thomas Blanc, et al.
Pageof 13