Αποτελέσματα αναζήτησης - Monia Magliozzi
- Εμφανίζονται 1 - 2 Αποτελέσματα από 2
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Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome από Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lißewski, Francesca Pantaleoni, Federica Consoli, Francesca Romana Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Čuturilo, Alessandro Sartório, Sigrid Tinschert, Maria Accadia, M. Cristina Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni Battista Ferrero, Simone Martinelli, Marco Tartaglia
Έκδοση 2017Artigo -
2
FOXI3 pathogenic variants cause one form of craniofacial microsomia από 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
Έκδοση 2023Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Gene
Genetics
Mutation
Allele
Allelic heterogeneity
Anatomy
Cluster (spacecraft)
Computational biology
Computer science
Craniofacial
Craniofacial abnormality
Expressivity
Genetic heterogeneity
Hemifacial microsomia
KRAS
Microtia
Noonan syndrome
PTPN11
Pedigree chart
Penetrance
Phenotype
Proband
Programming language
Variable Expression