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Page 1
Proceedings of the fourth international conference on central hypoventilation.
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium. Trang H, et al. Orphanet J Rare Dis. 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. Orphanet J Rare Dis. 2014. PMID: 25928806 Free PMC article. Review.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Gordon CT, et al. Among authors: kilner d. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315542
Unusual breathing in a 7 year old.
Abel F, Kilner D, Sonnappa S. Abel F, et al. Among authors: kilner d. BMJ. 2012 May 9;344:e3022. doi: 10.1136/bmj.e3022. BMJ. 2012. PMID: 22573698 No abstract available.
11 results