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Rachel Schot

Showing results (31-40 of 63) with videos related to

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HGG Advances|July 14, 2024
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndromeDaphne J Smits, Jordy Dekker, Hannie Douben, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalusAnnemieke J M H Verkerk, Rachel Schot, Laura van Waterschoot, et al.
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.
Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Brain : a Journal of Neurology|February 2, 2023
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetesDaphne J Smits, Rachel Schot, Nathalie Krusy, et al.
Plos Genetics|May 26, 2017
Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, David Baillat, Rachel Schot, et al.
Plos Genetics|August 2, 2017
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, David Baillat, Rachel Schot, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
HGG Advances|July 14, 2024
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndromeDaphne J Smits, Jordy Dekker, Hannie Douben, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalusAnnemieke J M H Verkerk, Rachel Schot, Laura van Waterschoot, et al.
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.
Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Brain : a Journal of Neurology|February 2, 2023
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetesDaphne J Smits, Rachel Schot, Nathalie Krusy, et al.
Plos Genetics|May 26, 2017
Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, David Baillat, Rachel Schot, et al.
Plos Genetics|August 2, 2017
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, David Baillat, Rachel Schot, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
Pageof 7