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Jeroen Breckpot

Showing results (51-60 of 103) with videos related to

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BMC Medical Genomics|November 29, 2019
Return of genetic and genomic research findings: experience of a pediatric biorepositoryTanya Papaz, Eriskay Liston, Laura Zahavich, et al.
Nature Medicine|August 28, 2023
Cell-free DNA methylome analysis for early preeclampsia predictionMarie De Borre, Huiwen Che, Qian Yu, et al.
Genome Medicine|August 30, 2020
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart diseaseJose M G Izarzugaza, Sabrina G Ellesøe, Canan Doganli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvementLucia Micale, Silvia Morlino, Annalucia Carbone, et al.
Genes|January 21, 2023
Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsNatalie Blagowidow, Beata Nowakowska, Erica Schindewolf, et al.
Human Molecular Genetics|December 30, 2019
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic originsLisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2025
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Philip C Dishuck, et al.
Nature Communications|April 18, 2026
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Nidhi Koundinya, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
Genome Medicine|October 14, 2024
A validated heart-specific model for splice-disrupting variants in childhood heart diseaseRobert Lesurf, Jeroen Breckpot, Jade Bouwmeester, et al.
Pageof 11

Showing results (51-60 of 103) with videos related to

Sort By:
Pageof 11
BMC Medical Genomics|November 29, 2019
Return of genetic and genomic research findings: experience of a pediatric biorepositoryTanya Papaz, Eriskay Liston, Laura Zahavich, et al.
Nature Medicine|August 28, 2023
Cell-free DNA methylome analysis for early preeclampsia predictionMarie De Borre, Huiwen Che, Qian Yu, et al.
Genome Medicine|August 30, 2020
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart diseaseJose M G Izarzugaza, Sabrina G Ellesøe, Canan Doganli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvementLucia Micale, Silvia Morlino, Annalucia Carbone, et al.
Genes|January 21, 2023
Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsNatalie Blagowidow, Beata Nowakowska, Erica Schindewolf, et al.
Human Molecular Genetics|December 30, 2019
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic originsLisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2025
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Philip C Dishuck, et al.
Nature Communications|April 18, 2026
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubsky, DongAhn Yoo, Nidhi Koundinya, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
Genome Medicine|October 14, 2024
A validated heart-specific model for splice-disrupting variants in childhood heart diseaseRobert Lesurf, Jeroen Breckpot, Jade Bouwmeester, et al.
Pageof 11