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Froyen

Showing results (151-160 of 172) with videos related to

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The Journal of Cell Biology|March 13, 2013
Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levelsNathalie Jurisch-Yaksi, Applonia J Rose, Huiqi Lu, et al.
Journal of Human Genetics|February 6, 2015
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disabilityCíntia Barros Santos-Rebouças, Luciana Guedes de Almeida, Stefanie Belet, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Human Genetics|June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityJoke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
Journal of Medical Genetics|May 6, 2008
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisationF S Jehee, A C V Krepischi-Santos, K M Rocha, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
Genome Research|April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Journal of Medical Genetics|August 21, 2013
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndromeMaria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
Molecular Oncology|January 31, 2025
Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnosticsGuy Froyen, Pieter-Jan Volders, Ellen Geerdens, et al.
Pageof 18

Showing results (151-160 of 172) with videos related to

Sort By:
Pageof 18
The Journal of Cell Biology|March 13, 2013
Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levelsNathalie Jurisch-Yaksi, Applonia J Rose, Huiqi Lu, et al.
Journal of Human Genetics|February 6, 2015
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disabilityCíntia Barros Santos-Rebouças, Luciana Guedes de Almeida, Stefanie Belet, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Human Genetics|June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityJoke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
Journal of Medical Genetics|May 6, 2008
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisationF S Jehee, A C V Krepischi-Santos, K M Rocha, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
Genome Research|April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters, Hilde Van Esch, Michael J Friez, et al.
Journal of Medical Genetics|August 21, 2013
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndromeMaria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
Molecular Oncology|January 31, 2025
Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnosticsGuy Froyen, Pieter-Jan Volders, Ellen Geerdens, et al.
Pageof 18