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S Bicknell

Showing results (41-50 of 58) with videos related to

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European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfismJennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
Genes & Development|June 2, 2017
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosisCarol-Anne Martin, Jennie E Murray, Paula Carroll, et al.
Genes & Development|October 15, 2016
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosisCarol-Anne Martin, Jennie E Murray, Paula Carroll, 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.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Pageof 6

Showing results (41-50 of 58) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfismJennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
Genes & Development|June 2, 2017
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosisCarol-Anne Martin, Jennie E Murray, Paula Carroll, et al.
Genes & Development|October 15, 2016
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosisCarol-Anne Martin, Jennie E Murray, Paula Carroll, 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.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Pageof 6