Resultats de la cerca - Francesca Piceci‐Sparascio
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The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting per Hossein Hozhabri, Francesca Piceci‐Sparascio, Hamidreza Sohrabi, Leila Mousavifar, René Roy, Daniela Scribano, Alessandro De Luca, Cecilia Ambrosi, Meysam Sarshar
Publicat 2020Revisão -
2
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome per Adrián Palencia‐Campos, Asmat Ullah, Julián Nevado, Ruken Yıldırım, Edip Ünal, María Ciorraga, Pilar Barrúz, Lucia Chico, Francesca Piceci‐Sparascio, Valentina Guida, Alessandro De Luca, Hülya Kayserili, Irfan Ullah, Margit Burmeister, Pablo Lapunzina, Wasim Ahmad, Aixa V. Morales, Víctor L. Ruiz‐Pérez
Publicat 2017Artigo -
3
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome per Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez
Publicat 2020Artigo -
4
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum per Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia
Publicat 2020Artigo -
5
FOXI3 pathogenic variants cause one form of craniofacial microsomia per Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci‐Sparascio, Daniela Melis, Bruno Dallapiccola, M. Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong‐Biao Zhang, Stylianos E. Antonarakis
Publicat 2023Artigo
Eines de cerca:
Matèries relacionades
Biology
Gene
Genetics
Mutation
Cell biology
Phenotype
Allele
Allelic heterogeneity
Anatomy
Betacoronavirus
Cancer research
Carcinogenesis
Case fatality rate
Coronavirus
Coronavirus disease 2019 (COVID-19)
Costello syndrome
Craniofacial
Craniofacial abnormality
Disease
Electrical engineering
Engineering
Epidemiology
Exon
Expressivity
GLI1
GLI2
GLI3
Genetic heterogeneity
Germline
Germline mutation