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Patrick Rump

Showing results (31-40 of 54) with videos related to

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Nature Genetics|February 7, 2012
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityDewi Astuti, Mark R Morris, Wendy N Cooper, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Pediatrics|September 24, 2017
Rapid Targeted Genomics in Critically Ill NewbornsCleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, et al.
Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, 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|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Nature Genetics|February 7, 2012
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityDewi Astuti, Mark R Morris, Wendy N Cooper, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Pediatrics|September 24, 2017
Rapid Targeted Genomics in Critically Ill NewbornsCleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, et al.
Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, 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|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Pageof 6