Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Matt Wherlock"'
Autor:
Axel Bohring, Jean-Baptiste Rivière, Joanna Kennedy, Giampaolo Garani, Margo Whiteford, Stefania Bigoni, Bregje W.M. van Bon, Elisa Ballardini, Laurence Faivre, Emmanuelle Ginglinger, Han G. Brunner, Matt Wherlock, Alexander Hoischen, Ruth Newbury-Ecob, Vincent Meyer, Robert Olaso, Geoff Woodward, Rocio Acuna-Hidalgo, Ange-Line Bruel, Judith St-Onge, Maggie Williams, Julien Thevenon, Christel Thauvin-Robinet, Giulia Parmeggiani, Jean-François Deleuze, Ddd Study, Chris C. Buxton, Alessandra Ferlini, Mark Greenslade, Anne Boland
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of ASXL1. However, several typical patients with BOS have no m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9616db17c74253ed460103a96e1c8340
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
Autor:
Ange-Line, Bruel, Stefania, Bigoni, Joanna, Kennedy, Margo, Whiteford, Chris, Buxton, Giulia, Parmeggiani, Matt, Wherlock, Geoff, Woodward, Mark, Greenslade, Maggie, Williams, Judith, St-Onge, Alessandra, Ferlini, Giampaolo, Garani, Elisa, Ballardini, Bregje W, van Bon, Rocio, Acuna-Hidalgo, Axel, Bohring, Jean-François, Deleuze, Anne, Boland, Vincent, Meyer, Robert, Olaso, Emmanuelle, Ginglinger, Ddd, Study, Jean-Baptiste, Rivière, Han G, Brunner, Alexander, Hoischen, Ruth, Newbury-Ecob, Laurence, Faivre, Christel, Thauvin-Robinet, Julien, Thevenon
Publikováno v:
Journal of medical genetics. 54(12)
Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations ofTo expand the phenotypical spectrum of autosomal recessive variants ofW
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c17c275343ac34a291b3c85537f4179e
https://pubmed.ncbi.nlm.nih.gov/29074562
https://pubmed.ncbi.nlm.nih.gov/29074562
Autor:
Moin A. Saleem, Ania Koziell, Shivaram Hegde, Margaret M. Williams, Martin Christian, Nicholas J.A. Webb, Hugh J. McCarthy, Manish D. Sinha, Milos Ognjanovic, Gavin I. Welsh, Matt Wherlock, Sally Feather, Stephen D. Marks, Larissa Kerecuk, Caroline Jones, Leah Krischock, Agnieszka Bierzynska, Rodney D. Gilbert
Summary Background and objectives Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation in 1 of 24 genes currently associated with this disease. Others may be affected by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e27d49d88e101a0f3af2b48498ebdcd
https://europepmc.org/articles/PMC3613958/
https://europepmc.org/articles/PMC3613958/