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Patrick Rump

Showing results (21-30 of 54) with videos related to

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Kidney International Reports|June 8, 2026
mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport SyndromeDipti Rao, Bartholomeus T van den Berge, Anneke T Vulto-van Silfhout, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.
Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.
Neurogenetics|August 13, 2011
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismEmma van Daalen, Chantal Kemner, Nienke E Verbeek, et al.
BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.
European Journal of Medical Genetics|August 21, 2018
PRRT2-related phenotypes in patients with a 16p11.2 deletionDanique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, et al.
Journal of Medical Genetics|February 19, 2011
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndromeSalima El Chehadeh-Djebbar, Laurence Faivre, Anne Moncla, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndromeRachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, et al.
Pageof 6

Showing results (21-30 of 54) with videos related to

Sort By:
Pageof 6
Kidney International Reports|June 8, 2026
mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport SyndromeDipti Rao, Bartholomeus T van den Berge, Anneke T Vulto-van Silfhout, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.
Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.
Neurogenetics|August 13, 2011
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismEmma van Daalen, Chantal Kemner, Nienke E Verbeek, et al.
BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.
European Journal of Medical Genetics|August 21, 2018
PRRT2-related phenotypes in patients with a 16p11.2 deletionDanique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, et al.
Journal of Medical Genetics|February 19, 2011
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndromeSalima El Chehadeh-Djebbar, Laurence Faivre, Anne Moncla, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndromeRachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, et al.
Pageof 6