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Rachel Schot

Showing results (1-10 of 63) with videos related to

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Clinical Genetics|June 11, 2024
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorderRachel Schot, Federico Ferraro, Geert Geeven, et al.
Clinical Genetics|November 18, 2024
BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA SequencingMyrrhe Venema, Fatimah Albuainain, Rachel Schot, et al.
European Journal of Human Genetics : EJHG|February 4, 2026
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literatureFatimah Albuainain, Myrrhe Venema, Rachel Schot, et al.
Clinical Dysmorphology|April 1, 2010
KBG syndrome associated with periventricular nodular heterotopiaRenske Oegema, Rachel Schot, Marie Claire Y de Wit, et al.
Human Molecular Genetics|August 14, 2010
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptomeW Edward Visser, Sigrid M A Swagemakers, Zeliha Ozgur, et al.
Neurogenetics|December 11, 2012
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutationsCathryn Poulton, Renske Oegema, Daphne Heijsman, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Periventricular nodular heterotopia and distal limb deficiency: a recurrent associationMarie Claire Y de Wit, Irenaeus F M de Coo, Rachel Schot, et al.
Neurology. Genetics|April 30, 2021
Biallelic <i>DAB1</i> Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J Smits, Rachel Schot, Martina Wilke, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 geneJan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
American Journal of Human Genetics|August 13, 2011
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsCathryn J Poulton, Rachel Schot, Sima Kheradmand Kia, et al.
Pageof 7

Showing results (1-10 of 63) with videos related to

Sort By:
Pageof 7
Clinical Genetics|June 11, 2024
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorderRachel Schot, Federico Ferraro, Geert Geeven, et al.
Clinical Genetics|November 18, 2024
BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA SequencingMyrrhe Venema, Fatimah Albuainain, Rachel Schot, et al.
European Journal of Human Genetics : EJHG|February 4, 2026
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literatureFatimah Albuainain, Myrrhe Venema, Rachel Schot, et al.
Clinical Dysmorphology|April 1, 2010
KBG syndrome associated with periventricular nodular heterotopiaRenske Oegema, Rachel Schot, Marie Claire Y de Wit, et al.
Human Molecular Genetics|August 14, 2010
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptomeW Edward Visser, Sigrid M A Swagemakers, Zeliha Ozgur, et al.
Neurogenetics|December 11, 2012
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutationsCathryn Poulton, Renske Oegema, Daphne Heijsman, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Periventricular nodular heterotopia and distal limb deficiency: a recurrent associationMarie Claire Y de Wit, Irenaeus F M de Coo, Rachel Schot, et al.
Neurology. Genetics|April 30, 2021
Biallelic <i>DAB1</i> Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J Smits, Rachel Schot, Martina Wilke, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 geneJan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
American Journal of Human Genetics|August 13, 2011
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsCathryn J Poulton, Rachel Schot, Sima Kheradmand Kia, et al.
Pageof 7