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Martin Broly

Showing results (1-10 of 12) with videos related to

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Genes|October 28, 2023
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control StudyLionel Heiser, Martin Broly, Cécile Rittore, et al.
Scientific Reports|March 20, 2019
Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumoniaElise Persyn, Mohamed Sassi, Marc Aubry, et al.
BMC Oral Health|April 7, 2019
Hidden intra-mandibular carcinoma cuniculatum appearing in a patient with metastatic prostate cancer: a case reportElyette Broly, Philippe Barthélémy, Saïd Ciftci, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression DataKaushik Ram Ganapathy, Martin Broly, Sarah Silverstein, et al.
Ebiomedicine|August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upVirginie Vignard, Mike Maillasson, Anne Bigot, et al.
The Journal of Experimental Medicine|December 3, 2025
SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseasesPauline Bronnec, Sarah Dalmon, Chloe Briand, et al.
Nature Communications|April 12, 2014
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autismRoser Corominas, Xinping Yang, Guan Ning Lin, et al.
The Journal of Allergy and Clinical Immunology|December 26, 2025
Somatic STAT5B<sup>N642H</sup> mutations shape variable immune landscapes resulting in heterogenous immune diseasesSarah Grün, Anne Rensing-Ehl, Tobias Suske, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Genes|October 28, 2023
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control StudyLionel Heiser, Martin Broly, Cécile Rittore, et al.
Scientific Reports|March 20, 2019
Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumoniaElise Persyn, Mohamed Sassi, Marc Aubry, et al.
BMC Oral Health|April 7, 2019
Hidden intra-mandibular carcinoma cuniculatum appearing in a patient with metastatic prostate cancer: a case reportElyette Broly, Philippe Barthélémy, Saïd Ciftci, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression DataKaushik Ram Ganapathy, Martin Broly, Sarah Silverstein, et al.
Ebiomedicine|August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upVirginie Vignard, Mike Maillasson, Anne Bigot, et al.
The Journal of Experimental Medicine|December 3, 2025
SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseasesPauline Bronnec, Sarah Dalmon, Chloe Briand, et al.
Nature Communications|April 12, 2014
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autismRoser Corominas, Xinping Yang, Guan Ning Lin, et al.
The Journal of Allergy and Clinical Immunology|December 26, 2025
Somatic STAT5B<sup>N642H</sup> mutations shape variable immune landscapes resulting in heterogenous immune diseasesSarah Grün, Anne Rensing-Ehl, Tobias Suske, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Pageof 2