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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

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The 2017 international classification of the Ehlers–Danlos syndromes
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics· Tập 175 Số 1 ·Trang 8-26·2017
Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Bo Berglund, James H. Black, Lara Bloom, Jessica Bowen, Naveena Singh, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Glenda Sobey, Tim Van Damme, Patricia Van der Niepen, Caroline van Mourik, Nigel Wheeldon, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle
1385
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics· Tập 163 Số 2 ·Trang 92-105·2013
Edouard Cottereau, Isabelle Mortemousque, Marie‐Pierre Moizard, Lydie Bürglen, Didier Lacombe, Brigitte Gilbert‐Dussardier, Sabine Sigaudy, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Jeanne Amiel, R. C. Robertson, Fabiana Ramos, Éric Bieth, Sylvie Odent, Bénédicte Demeer, M Mathieu, Dominique Gaillard, Lionel Van Maldergem, Geneviève Baujat, Isabelle Maystadt, Delphine Héron, Alain Verloès, Nicole Philip, MARIE‐FRANÇOISE FROUTÉ, Lucile Pinson, Patricia Blanchet, Pierre Sarda, Marjolaine Willems, Adeline Jacquinet, Ilham Ratbi, Jenneke van den Ende, Maciej Lis, Alice Goldenberg, Dominique Bonneau, Sylvie Rossignol, Annick Toutain
84
Tổng số: 15
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