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Rachel Schot

Showing results (41-50 of 63) with videos related to

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Nature Genetics|April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
The Journal of Experimental Medicine|June 22, 2016
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeMarije E C Meuwissen, Rachel Schot, Sofija Buta, et al.
Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
Circulation|March 27, 2023
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated CardiomyopathyYoung Wook Chun, Matthew Miyamoto, Charles H Williams, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
American Journal of Human Genetics|January 20, 2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Rachel Schot, Michiel Bongaerts, et al.
Clinical Genetics|July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.
Brain : a Journal of Neurology|March 18, 2019
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamicsLaura V Vandervore, Rachel Schot, Esmee Kasteleijn, et al.
Pageof 7

Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Nature Genetics|April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
The Journal of Experimental Medicine|June 22, 2016
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeMarije E C Meuwissen, Rachel Schot, Sofija Buta, et al.
Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
Circulation|March 27, 2023
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated CardiomyopathyYoung Wook Chun, Matthew Miyamoto, Charles H Williams, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
American Journal of Human Genetics|January 20, 2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Rachel Schot, Michiel Bongaerts, et al.
Clinical Genetics|July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.
Brain : a Journal of Neurology|March 18, 2019
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamicsLaura V Vandervore, Rachel Schot, Esmee Kasteleijn, et al.
Pageof 7