Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hannah C Boulding"'
Autor:
Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, Caleb Webber
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003523 (2013)
Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de novo copy number variants (CNVs) identified in 181 in
Externí odkaz:
https://doaj.org/article/fb31c2e77b0f4cce9f9517e06dcbc7bf
Autor:
Richard C. Trembath, Hannah C. Boulding, Jane Setterfield, Karen E. Harman, Francesca Capon, Martin M. Black, N. J. Mortimer, M. Quaranta
Publikováno v:
British Journal of Dermatology. 161:1403-1405
Autor:
Christian R. Marshall, Caleb Webber, Hannah C. Boulding, Anath C. Lionel, Dalila Pinto, Stephen Meader, Catalina Betancur, Stephen W. Scherer, Joseph D. Buxbaum, Chris P. Ponting, Hyun Ji Noh
Publikováno v:
PLoS Genetics
PLoS Genetics, Public Library of Science, 2013, 9 (6), pp.e1003523. ⟨10.1371/journal.pgen.1003523⟩
PLoS Genetics, 2013, 9 (6), pp.e1003523. ⟨10.1371/journal.pgen.1003523⟩
PLoS Genetics, Vol 9, Iss 6, p e1003523 (2013)
PLoS Genetics; Vol 9
PLoS Genetics, Public Library of Science, 2013, 9 (6), pp.e1003523. ⟨10.1371/journal.pgen.1003523⟩
PLoS Genetics, 2013, 9 (6), pp.e1003523. ⟨10.1371/journal.pgen.1003523⟩
PLoS Genetics, Vol 9, Iss 6, p e1003523 (2013)
PLoS Genetics; Vol 9
Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de novo copy number variants (CNVs) identified in 181 in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2120aa12f72ffb67736ca5f1f3e399
https://www.hal.inserm.fr/inserm-00834559/document
https://www.hal.inserm.fr/inserm-00834559/document
Autor:
Caleb Webber, Hannah C. Boulding
Publikováno v:
Human Mutation; Vol 33
Copy number variants (CNVs) are thought to underlie many human developmental abnormalities. However, it is unclear how many of these CNVs exert their pathogenic effects or, in particular, how distinct CNVs at dispersed loci can give rise to the same