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1 |
Material Type: Livro
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Gorlin's syndromes of the head and neckRaoul C. M Hennekam Judith E Allanson; Ian D Krantz; Robert J Gorlin 1923-2006Oxford etc. Oxford University Press 2010Localização: FORP - Fac. Odont. de Ribeirão Preto (612.8 H515g5 7909 )(Acessar) |
2 |
Material Type: Livro
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Syndromes of the head and neckRobert J Gorlin 1923-2006 M. Michael Cohen (Meyer Michael) 1937-; Raoul C. M HennekamOxford England Oxford University Press New York 2001Localização: FORP - Fac. Odont. de Ribeirão Preto (616.831'734-008.6 G669sy4 7662 )(Acessar) |
3 |
Material Type: Artigo
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Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotypeEmma M. Wade Zandra A Jenkins; Philip B Daniel; Tim Morgan; Marie C Addor; Lesley C Adés; Debora Bertola; Axel Bohring; Erin Carter; Tae-Joon Cho; Christa M. de Geus; Hans-Christoph Duba; Elaine Fletcher; Kinga Hadzsiev; Raoul C. M Hennekam; Chong A Kim; Eva Deborah Krakow; Eva Morava; Teresa Neuhann; David Sillence; Andrea Superti-Furga; Hermine E Veenstra-Knol; Dagmar Wieczorek; Louise C Wilson; David M Markie; Stephen P RobertsonAmerican Journal of Medical Genetics - Part A Hoboken v. 173A, n. 7, p. p. 1739–1746, July 2017Hoboken 2017Localização: FM - Fac. Medicina (BCSEP 392 2017 )(Acessar) |
4 |
Material Type: Artigo
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Further delineation of Kabuki Syndrome in 48 well-defined new individualsLinlea Armstrong Azza Abd El Moneim; Kirk Aleck; David J Aughton; Clarisse Baumann; Stephen R Braddock; Gabriele Gillessen-Kaesbach; John M Graham Junior; Theresa A Grebe; Karen W Gripp; Bryan D Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E Lin; Jeffrey E Ming; Nancy Mizue Kokitsu Nakata; Sarah M Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S Williams; Elaine Zackai; Judith E AllansonAmerican Journal of Medical Genetics. Part A Hoboken v. 132A, n. 3, p. 265-272, Jan. 2005Hoboken 2005Item não circula. Consulte sua biblioteca.(Acessar) |
5 |
Material Type: Artigo
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Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeAnneke Kievit Federico Tessadori; Hannie Douben; Ingrid Jordens; Madelon Maurice; Jeannette Hoogeboom; Raoul Hennekam; Sheela Nampoothiri; Hülya Kayserili; Marco Castori; Margo Whiteford; Connie Motter; Catherine Melver; Michael Cunningham; Anne Hing; Nancy Mizue Kokitsu Nakata; Siulan Vendramini Paulovich Pittoli; Antonio Richieri-Costa; Annette F Baas; Corstiaan C Breugem; Karen Duran; Maarten Massink; Patrick W. B Derksen; Wilfred F. J. van IJcken; Leontine van Unen; Fernando Santos Simarro; Pablo Lapunzina; Vera Lúcia Gil da Silva Lopes; Elaine Lustosa Mendes; Max Krall; Anne Slavotinek Victor Martinez-Glez; Jeroen Bakkers; Koen L. I. van Gassen; Annelies de Klein; Marie-José H. van den Boogaard; Gijs van HaaftenEuropean Journal of Human Genetics London v. 26, n. 2, p. 210-219, Feb. 2018London 2018Item não circula. Consulte sua biblioteca.(Acessar) |
6 |
Material Type: Artigo
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Mapping the human DC lineage through the integration of high-dimensional techniquesDutertre, Charles-Antoine ; See, Peter ; Chen, Jinmiao ; Günther, Patrick ; McGovern, Naomi ; Irac, Sergio Erdal ; Gunawan, Merry ; Beyer, Marc ; Händler, Kristian ; Duan, Kaibo ; Sumatoh, Hermi Rizal Bin ; Ruffin, Nicolas ; Jouve, Mabel ; Gea-Mallorquí, Ester ; Hennekam, Raoul C. M. ; Lim, Tony ; Yip, Chan Chung ; Wen, Ming ; Malleret, Benoit ; Low, Ivy ; Shadan, Nurhidaya Binte ; Fen, Charlene Foong Shu ; Tay, Alicia ; Lum, Josephine ; Zolezzi, Francesca ; Larbi, Anis ; Poidinger, Michael ; Chan, Jerry K. Y. ; Chen, Qingfeng ; Rénia, Laurent ; Haniffa, Muzlifah ; Benaroch, Philippe ; Schlitzer, Andreas ; Schultze, Joachim L. ; Newell, Evan W. ; Ginhoux, FlorentScience (American Association for the Advancement of Science), 2017-06, Vol.356 (6342), p.1044-1044 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |
7 |
Material Type: Artigo
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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten SyndromeRutsch, Frank ; MacDougall, Mary ; Lu, Changming ; Buers, Insa ; Mamaeva, Olga ; Nitschke, Yvonne ; Rice, Gillian I. ; Erlandsen, Heidi ; Kehl, Hans Gerd ; Thiele, Holger ; Nürnberg, Peter ; Höhne, Wolfgang ; Crow, Yanick J. ; Feigenbaum, Annette ; Hennekam, Raoul C.American journal of human genetics, 2015-02, Vol.96 (2), p.275-282 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
8 |
Material Type: Artigo
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Cantú Syndrome Is Caused by Mutations in ABCC9van Bon, Bregje W.M. ; Gilissen, Christian ; Grange, Dorothy K. ; Hennekam, Raoul C.M. ; Kayserili, Hülya ; Engels, Hartmut ; Reutter, Heiko ; Ostergaard, John R. ; Morava, Eva ; Tsiakas, Konstantinos ; Isidor, Bertrand ; Le Merrer, Martine ; Eser, Metin ; Wieskamp, Nienke ; de Vries, Petra ; Steehouwer, Marloes ; Veltman, Joris A. ; Robertson, Stephen P. ; Brunner, Han G. ; de Vries, Bert B.A. ; Hoischen, AlexanderAmerican journal of human genetics, 2012-06, Vol.90 (6), p.1094-1101 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
9 |
Material Type: Artigo
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Rubinstein-Taybi syndromeHENNEKAM, Raoul C. MEuropean journal of human genetics : EJHG, 2006-09, Vol.14 (9), p.981-985 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
10 |
Material Type: Artigo
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Etiology of non-immune hydrops fetalis: An updateBellini, Carlo ; Donarini, Gloria ; Paladini, Dario ; Calevo, Maria Grazia ; Bellini, Tommaso ; Ramenghi, Luca A ; Hennekam, Raoul CAmerican journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1082-1088 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |