Title |
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
|
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Published in |
Journal of Medical Genetics, March 2022
|
DOI | 10.1136/jmedgenet-2021-108093 |
Pubmed ID | |
Authors |
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 7% |
United States | 1 | 7% |
United Kingdom | 1 | 7% |
Unknown | 11 | 79% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 11 | 79% |
Scientists | 3 | 21% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 21 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 29% |
Student > Bachelor | 3 | 14% |
Other | 2 | 10% |
Student > Ph. D. Student | 2 | 10% |
Student > Postgraduate | 1 | 5% |
Other | 0 | 0% |
Unknown | 7 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 38% |
Biochemistry, Genetics and Molecular Biology | 4 | 19% |
Agricultural and Biological Sciences | 2 | 10% |
Unknown | 7 | 33% |