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The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
1750-1172
63
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Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V, Lacombe, Didier, Lee, Chung, Lo, Ivan F, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray and Boycott, Kym M (2013) The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8 (1), 63. (doi:10.1186/1750-1172-8-63).

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More information

Published date: 27 April 2013
Related URLs:
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 352087
URI: http://eprints.soton.ac.uk/id/eprint/352087
DOI: doi:10.1186/1750-1172-8-63
ISSN: 1750-1172
PURE UUID: 5c235eaa-26ec-49d9-9c06-d485d5c35321
ORCID for I Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 01 May 2013 10:49
Last modified: 15 Mar 2024 03:00

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Contributors

Author: Sarah M Nikkel
Author: Andrew Dauber
Author: Sonja de Munnik
Author: Meghan Connolly
Author: Rebecca L Hood
Author: Oana Caluseriu
Author: Jane Hurst
Author: Usha Kini
Author: Malgorzata J Nowaczyk
Author: Alexandra Afenjar
Author: Beate Albrecht
Author: Judith E Allanson
Author: Paolo Balestri
Author: Tawfeg Ben-Omran
Author: Francesco Brancati
Author: Isabel Cordeiro
Author: Bruna Santos da Cunha
Author: Louisa A Delaney
Author: Anne Destrée
Author: David Fitzpatrick
Author: Francesca Forzano
Author: Neeti Ghali
Author: Greta Gillies
Author: Katerina Harwood
Author: Yvonne M Hendriks
Author: Delphine Héron
Author: Alexander Hoischen
Author: Engela Magdalena Honey
Author: Lies H Hoefsloot
Author: Jennifer Ibrahim
Author: Claire M Jacob
Author: Sarina G Kant
Author: Chong Ae Kim
Author: Edwin P Kirk
Author: Nine V Knoers
Author: Didier Lacombe
Author: Chung Lee
Author: Ivan F Lo
Author: Luiza S Lucas
Author: Francesca Mari
Author: Veronica Mericq
Author: Jukka S Moilanen
Author: Sanne Traasdahl Møller
Author: Stephanie Moortgat
Author: Daniela T Pilz
Author: Kate Pope
Author: Susan Price
Author: Alessandra Renieri
Author: Joaquim Sá
Author: Jeroen Schoots
Author: Elizabeth L Silveira
Author: Marleen E Simon
Author: Anne Slavotinek
Author: I Karen Temple ORCID iD
Author: Ineke van der Burgt
Author: Bert B de Vries
Author: James D Weisfeld-Adams
Author: Margo L Whiteford
Author: Dagmar Wierczorek
Author: Jan M Wit
Author: Connie Fung Yee
Author: Chandree L Beaulieu
Author: Sue M White
Author: Dennis E Bulman
Author: Ernie Bongers
Author: Han Brunner
Author: Murray Feingold
Author: Kym M Boycott

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