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Jennie E Murray

Showing results (1-10 of 14) with videos related to

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Developmental Medicine and Child Neurology|May 11, 2012
Exploring microcephaly and human brain evolutionJennie E Murray, Andrew P Jackson
Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMichael B Bober, Tim Niiler, Angela L Duker, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, 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.
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.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Developmental Medicine and Child Neurology|May 11, 2012
Exploring microcephaly and human brain evolutionJennie E Murray, Andrew P Jackson
Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMichael B Bober, Tim Niiler, Angela L Duker, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, 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.
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.
Pageof 2