Browsing by Author Inst Child Hlth

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Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)
1-Mar-2006Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeNiihori, T.; Aoki, Y.; Narumi, Y.; Neri, G.; Cave, H.; Verloes, A.; Okamoto, N.; Hennekam, RCM; Gillessen-Kaesbach, G.; Wieczorek, D.; Kavamura, M. I.; Kurosawa, K.; Ohashi, H.; Wilson, L.; Heron, D.; Bonneau, D.; Corona, G.; Kaname, T.; Naritomi, K.; Baumann, C.; Matsumoto, N.; Kato, K.; Kure, S.; Matsubara, Y.; Tohoku Univ; Catholic Univ; Hop Robert Debre; Osaka Med Ctr; Res Inst Maternal & Child Hlth; Inst Child Hlth; Acad Med Ctr; Univ Essen Gesamthsch; Universidade Federal de São Paulo (UNIFESP); Kanagawa Childrens Med Ctr; Saitama Childrens Med Ctr; Great Ormond St Hosp Sick Children; Pitie Salpetriere Univ Hosp; Univ Hosp; Azienda Osped Univ G Martino; Univ Ryukyus; Yokohama City Univ
1-Jan-1998Marfan Database (third edition): new mutations and new routines for the softwareCollod-Beroud, G.; Beroud, C.; Ades, L.; Black, C.; Boxer, M.; Brocks, DJH; Holman, K. J.; Paepe, A. de; Francke, U.; Grau, U.; Hayward, C.; Klein, H. G.; Liu, W. G.; Nuytinck, L.; Peltonen, L.; Perez, Ana Beatriz Alvarez; Rantamaki, T.; Junien, C.; Boileau, C.; Univ Paris 05; CHU Cochin Port Royal; Hop Broussais; Royal Alexandra Hosp Children New; Univ Dundee; Inst Child Hlth; Univ Edinburgh; St George Hosp; Stanford Univ; Univ Munich; State Univ Ghent Hosp; Natl Publ Hlth Inst; Universidade Federal de São Paulo (UNIFESP); Hop Ambroise Pare
15-Apr-2007Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndromeNarumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi; Tohoku Univ; Univ Cattolica Sacro Cuore; Hop Robert Debre; Universidade Federal de São Paulo (UNIFESP); Osaka Med Ctr; Res Inst Maternal & Child Hlth; Kanagawa Childrens Med Ctr; Inst Child Hlth; Univ Amsterdam; Great Ormond St Hosp Sick Children; Univ Essen Gesamthsch; Univ Klinikum Schleswig Holstein; Hosp Univ La Paz; Saitama Childrens Med Ctr; Asahikawa Med Coll; Ibaraki Prefectural Handicapped Childrens Ctr; Hirosaki Univ
26-Feb-2009Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromesSalzer, Ulrich; Bacchelli, Chiara; Buckridge, Sylvie; Pan-Hammarstrom, Qiang; Jennings, Stephanie; Lougaris, Vassilis; Bergbreiter, Astrid; Hagena, Tina; Birmelin, Jennifer; Plebani, Alessandro; Webster, A. David B.; Peter, Hans-Hartmut; Suez, Daniel; Chapel, Helen; McLean-Tooke, Andrew; Spickett, Gavin P.; Anover-Sombke, Stephanie; Ochs, Hans D.; Urschel, Simon; Belohradsky, Bernd H.; Ugrinovic, Sanja; Kumararatne, Dinakantha S.; Lawrence, Tatiana C. [UNIFESP]; Holm, Are M.; Franco, Jose L.; Schulze, Ilka; Schneider, Pascal; Gertz, E. Michael; Schaffer, Alejandro A.; Hammarstrom, Lennart; Thrasher, Adrian J.; Gaspar, H. Bobby; Grimbacher, Bodo; Univ Hosp Freiburg; Inst Child Hlth; Karolinska Univ Hosp Huddinge; Univ Brescia; Spedali Civil Brescia; Royal Free Hosp; UCL; Allergy Asthma & Immunol Clin; Oxford Radcliffe Hosp; Royal Victoria Infirm; Univ Washington; Childrens Hosp; Univ Munich; Addenbrookes Hosp; Universidade Federal de São Paulo (UNIFESP); Univ Oslo; Univ Antioquia; Charite Humboldt Univ; Univ Lausanne; Natl Lib Med