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收藏How Does Cognition Impact Healthcare Transition Skills, Engagement and Utilization in Young Adults Living with Sickle Cell Disease?认知如何影响居住在镰状细胞病中的年轻人的医疗过渡技能、参与度和利用率?
Georges, Phalica; Marsolais, Sophie; Charles, Chrystelle; Hafsaoui, Amer Yassine; Bergeron, Jade; Fritz, Barbara; Van Synghel, Nancy; Fraile, Valerie; Fournier, Nathalie; Leblanc, Melissa; Arena, Lauren; Sultan, Serge; Robitaille, Nancy; Desjardins, Leandra; Gaucher, Nathalie; Pastore, Yves; Forte, Stephanie
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收藏Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
Pfeifer, Mateja; Rehder, Helga; Gerykova Bujalkova, Maria; Bartsch, Christine; Fritz, Barbara; Knopp, Cordula; Beckers, Bjoern; Dohle, Frank; Meyer-Wittkopf, Matthias; Axt-Fliedner, Roland; Beribisky, Alexander V.; Hofer, Manuel; Laccone, Franco; Schoner, Katharina
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收藏Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl-Heinz
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收藏The CHK2-BRCA1 tumour suppressor pathway ensures chromosomal stability in human somatic cells
Stolz, Ailine; Ertych, Norman; Kienitz, Anne; Vogel, Celia; Schneider, Verena; Fritz, Barbara; Jacob, Ralf; Dittmar, Gunnar; Weichert, Wilko; Petersen, Iver; Bastians, Holger
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收藏Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
Grzeschik, Karl-Heinz; Bornholdt, Dorothea; Oeffner, Frank; Koenig, Arne; del Carmen Boente, Maria; Enders, Herbert; Fritz, Barbara; Hertl, Michael; Grasshoff, Ute; Hoefling, Katja; Oji, Vinzenz; Paradisi, Mauro; Schuchardt, Christian; Szalai, Zsuzsanna; Tadini, Gianluca; Traupe, Heiko; Happle, Rudolf
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收藏Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney
Wieser, R; Fritz, B; Ullmann, R; Müller, I; Galhuber, M; Storlazzi, CT; Ramaswamy, A; Christiansen, H; Shimizu, N; Rehder, H
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