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Koenraad Devriendt

Showing results (171-180 of 190) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Journal of the American College of Cardiology|April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissectionsAida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Pageof 19

Showing results (171-180 of 190) with videos related to

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Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Journal of the American College of Cardiology|April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissectionsAida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Pageof 19