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Developmental Medicine and Child Neurology
|
May 11, 2012
Exploring microcephaly and human brain evolution
Jennie 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 NIPBL
Jennie 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 loss
Alistair 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 mutations
Michael 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 PHAX
Morad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation
|
May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfism
Žygimantė 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 dwarfism
Jennie 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 mitosis
Carol-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 mitosis
Carol-Anne Martin, Jennie E Murray, Paula Carroll, et al.
Human Mutation
|
October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiency
Jennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Developmental Medicine and Child Neurology
|
May 11, 2012
Exploring microcephaly and human brain evolution
Jennie 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 NIPBL
Jennie 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 loss
Alistair 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 mutations
Michael 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 PHAX
Morad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation
|
May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfism
Žygimantė 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 dwarfism
Jennie 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 mitosis
Carol-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 mitosis
Carol-Anne Martin, Jennie E Murray, Paula Carroll, et al.
Human Mutation
|
October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiency
Jennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Page
of 2