Maas, Saskia M.Shaw, C. A.Bikker, HennieLüdecke, Hermann-JosefTuin, Karin van derBadura-Stronka, MagdalenaBelligni, ElgaBonati, Maria TeresaCarvalho, Daniel R.Cobben, JanMaartenMan, Stella A. deHollander, Nicolette S. DenDi, Donato, NataliyaGaravelli, LiviaGrønborg, SabineHerkert, Johanna C.Hoogeboom, A. Jeannette M.Jamsheer, AleksanderLatos-Bielenska, AnnaMaat-Kievit, AnnekeMagnani, CinziaMarcelis, CarloMathijssen, Inge B.Nielsen, MaartjeOtten, EllenOusager, Lilian B.Pilch, JacekPlomp, AstridPoke, GemmaPoluha, AnnaPosmyk, RenataRieubland, ClaudineSilengo, MargharitaSimon, MarleenSteichen, ElisabethStumpel, ConnieSzakszon, KatalinEnde, Jenneke van denSteen, Antony van derEssen, Ton vanHaeringen, Arie vanHagen, Johanna M. vanVerheij, Joke B.G.M.Mannens, Marcel M.Hennekam, Raoul C.2015-05-072015-05-072015European Journal Of Medical Genetics. -58 : 5 (2015), p. 279-292. -Eur. J. Med. Genet. - 1769-72121769-7212http://hdl.handle.net/2437/212304Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromefolyóiratcikkopen access pre-print és post-print (12h embargó)http://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM058577OrvostudományokKlinikai orvostudományokhttp://linkinghub.elsevier.com/retrieve/pii/S1769721215000592Elsevierhttp://dx.doi.org/10.1016/j.ejmg.2015.03.002http://linkinghub.elsevier.com/retrieve/pii/S17697212150005922019-07-16