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Browsing by Author Donnai, Dian

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Date de publicationData de defesaTitreAuteur(s)Orientador(es)Coorientador(es):
2022-Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variabilityChaofan Zhang; Jolly, Angad; Shayota, Brian J.; Araújo, Juliana Forte Mazzeu de; Haowei Du; Dawood, Moez; Soper, Patricia Celestino; Lima, Ariadne Ramalho de; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; Potocki, Lorraine; Chung, Wendy K.; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A.; Mason, Kati; Pollack, Lynda C.; McConkie-Rosell, Allyn; Wei Kelly; McDonald, Marie; Hauser, Natalie S.; Leahy, Peter; Powell, Cynthia M.; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R.; Odone Filho, Vicente; Genomics England Research Consortium; Muzny, Donna M.; Gibbs, Richard A.; Posey, Jennifer E.; Pengfei Liu; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B.--
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