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Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA Grati, Francesca Romana; Ferreira, Jose; Benn, Peter; Izzi, Claudia; Verdi, Federica; Vercellotti, Elena; Dalpiaz, Cristina; D'Ajello, Patrizia; Filippi, Elisa; Volpe, Nicola; Malvestiti, Francesca; Maggi, Federico; Simoni, Giuseppe; Frusca, Tiziana; Cirelli, Gaetana; Bracalente, Gabriella; Lo Re, Antonino; Surico, Daniela; Ghi, Tullio; Prefumo, Federico 分享 收藏
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Association between LEPR, FTO, MC4R, and PPARG-2 polymorphisms with obesity traits and metabolic phenotypes in school-aged children Almeida, Silvia M.; Furtado, Jose M.; Mascarenhas, Paulo; Ferraz, Maria E.; Ferreira, Jose C.; Monteiro, Mariana P.; Vilanova, Manuel; Ferraz, Fernando P. 分享 收藏
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Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results Grati, Francesca R.; Malvestiti, Francesca; Ferreira, Jose C. P. B.; Bajaj, Komal; Gaetani, Elisa; Agrati, Cristina; Grimi, Beatrice; Dulcetti, Francesca; Ruggeri, Anna M.; De Toffol, Simona; Maggi, Federico; Wapner, Ronald; Gross, Susan; Simoni, Giuseppe 分享 收藏
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Gil-Rodriguez, Maria Concepcion; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillen-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Perez-Aytes, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pie, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A. 分享 收藏
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Adoption of evidence based recommendations for GDM results in improved fetal and maternal outcomes King, Mary; Ragsdale, Ellie; Ferreira, Jose Carlos; McKenzie, Tonie; Karpel, Barry; Choi, Yvonne; Papera, Susan; Moore, Robert; Wilcox, Wendy; Gross, Susan 分享 收藏
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Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease Bergmann, Carsten; von Bothmer, Jennifer; Bruechle, Nadina Ortiz; Venghaus, Andreas; Frank, Valeska; Fehrenbach, Henry; Hampel, Tobias; Pape, Lars; Buske, Annegret; Jonsson, Jon; Sarioglu, Nanette; Santos, Antonia; Ferreira, Jose Carlos; Becker, Jan U.; Cremer, Reinhold; Hoefele, Julia; Benz, Marcus R.; Weber, Lutz T.; Buettner, Reinhard; Zerres, Klaus 分享 收藏
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A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes Choufani, Sanaa; Shapiro, Jonathan S.; Susiarjo, Martha; Butcher, Darci T.; Grafodatskaya, Daria; Lou, Youliang; Ferreira, Jose C.; Pinto, Dalila; Scherer, Stephen W.; Shaffer, Lisa G.; Coullin, Philippe; Caniggia, Isabella; Beyene, Joseph; Slim, Rima; Bartolomei, Marisa S.; Weksberg, Rosanna 分享 收藏
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Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening? Comstock, Christine H.; Malone, Fergal D.; Ball, Robert H.; Nyberg, David A.; Saade, Georqe R.; Berkowitz, Richard L.; Ferreira, Jose; Dugoff, Lorraine; Craigo, Sabrina D.; Timor-Tritsch, Ilan E.; Stephen, R. Carr; Wolfe, Honor M.; Bianchi, Diana W.; D'Alton, Mary E. 分享 收藏
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