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Margot R F Reijnders

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 11, 2014
Chromosomal aberrations in cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 11, 2014
Chromosomal aberrations in cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Pageof 3