Clinical effectiveness of olaparib monotherapy in germline BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: phase IIIb LUCY interim analysis
2021-01-01 Gelmon, K. A.; Fasching, P. A.; Couch, F. J.; Balmana, J.; Delaloge, S.; Labidi-Galy, I.; Bennett, J.; Mccutcheon, S.; Walker, G.; O'Shaughnessy, J.; Collaborating, Investigators; Bianchini, G; Santoro, A
ASSISTENZA INFERMIERISTICA DOMICILIARE IN ITALIA AIDOMUS-IT: PRIMO STUDIO NAZIONALE DEL CENTRO DI ECCELLENZA PER LA RICERCA E LO SVILUPPO DELL’INFERMIERISTICA CERSI- FNOPI
2022-01-01 Bagnasco, Annamaria; Alvaro, Rosaria; Lancia, Loreto; Manara, Duilio Fiorenzo; Rasero, Laura; Rocco, Gennaro; Zega, Maurizio; Mangiacavalli, Barbara; Mazzoleni, Beatrice; Sasso, Loredana
Atrial fibrillation recurrences during the blanking period after catheter ablation with the laser balloon technique
2023-01-01 Schiavone, M.; Gasperetti, A.; Martignani, C.; Montemerlo, E.; Ciconte, G.; Ziacchi, M.; Arosio, R.; Piazzi, E.; Spadotto, A.; Ruggiero, D.; Angeletti, A.; Pozzi, M.; Biffi, M.; Rovaris, G.; Forleo, G. B.
L'intelligenza artificiale e la conoscenza di sé
2022-01-01 Girgenti, Giuseppe
Impact of Liver Cirrhosis, Severity of Cirrhosis, and Portal Hypertension on the Difficulty and Outcomes of Laparoscopic and Robotic Major Liver Resections for Primary Liver Malignancies
2024-01-01 Cipriani, F.; Aldrighetti, L.; Ratti, F.; Wu, A. G. R.; Kabir, T.; Scatton, O.; Lim, C.; Zhang, W.; Sijberden, J.; Aghayan, D. L.; Siow, T. F.; Dokmak, S.; Coelho, F. F.; Herman, P.; Marino, M. V.; Mazzaferro, V.; Chiow, A. K. H.; Sucandy, I.; Ivanecz, A.; Choi, S. H.; Lee, J. H.; Gastaca, M.; Vivarelli, M.; Giuliante, F.; Ruzzenente, A.; Yong, C. C.; Yin, M.; Fondevila, C.; Efanov, M.; Morise, Z.; Di Benedetto, F.; Brustia, R.; Dalla Valle, R.; Boggi, U.; Geller, D.; Belli, A.; Memeo, R.; Gruttadauria, S.; Mejia, A.; Park, J. O.; Rotellar, F.; Choi, G. H.; Robles-Campos, R.; Wang, X.; Sutcliffe, R. P.; Pratschke, J.; Lai, E. C. H.; Chong, C. C. N.; D’Hondt, M.; Monden, K.; Lopez-Ben, S.; Kingham, T. P.; Ferrero, A.; Ettorre, G. M.; Cherqui, D.; Liang, X.; Soubrane, O.; Wakabayashi, G.; Troisi, R. I.; Cheung, T. T.; Kato, Y.; Sugioka, A.; Han, H. S.; Long, T. C. D.; Liu, Q.; Liu, R.; Edwin, B.; Fuks, D.; Chen, K. H.; Abu Hilal, M.; Goh, B. K. P.
Peri-operative score for elderly patients with resectable hepatocellular carcinoma
2023-01-01 Conticchio, M.; Inchingolo, R.; Delvecchio, A.; Ratti, F.; Gelli, M.; Anelli, M. F.; Laurent, A.; Vitali, G. C.; Magistri, P.; Assirati, G.; Felli, E.; Wakabayashi, T.; Pessaux, P.; Piardi, T.; Di Benedetto, F.; De'Angelis, N.; Briceno, J.; Rampoldi, A.; Adam, R.; Cherqui, D.; Aldrighetti, L. A.; Memeo, R.
A tetracationic porphyrin with dual anti-prion activity
2023-01-01 Masone, A.; Zucchelli, C.; Caruso, E.; Lavigna, G.; Erana, H.; Giachin, G.; Tapella, L.; Comerio, L.; Restelli, E.; Raimondi, I.; Elezgarai, S. R.; De Leo, F.; Quilici, G.; Taiarol, L.; Oldrati, M.; Lorenzo, N. L.; Garcia-Martinez, S.; Cagnotto, A.; Lucchetti, J.; Gobbi, M.; Vanni, I.; Nonno, R.; Di Bari, M. A.; Tully, M. D.; Cecatiello, V.; Ciossani, G.; Pasqualato, S.; Van Anken, E.; Salmona, M.; Castilla, J.; Requena, J. R.; Banfi, S.; Musco, G.; Chiesa, R.
Advice of General Practitioner, of Surgeon, of Endocrinologist, and Self-determination: the Italian Road to Bariatric Surgery
2022-01-01 Pontiroli, A. E.; Mingrone, G.; Colao, A.; Barrea, L.; Cannavale, G.; Pinna, F.; Ceriani, V.; De Carli, S. M.; Cesana, G.; Olmi, S.; Scolari, G.; Sarro, S.; Sarro, G.; Procopio, C.; Giovanelli, A.; Morricone, L.; Micheletto, G.; Malavazos, A.; Panizzo, V.; Plebani, L.; Zappa, M. A.; Tubazio, I.; Foschi, D.; Capogrossi, S.; Conte, C.; Saibene, A.; Socci, C.; Gozza, M.; Testa, S.; Marinari, G.; Maccatrozzo, S.; Croci, M.; Mozzi, E.; Verrastro, O.; Capristo, E.; Raffaelli, M.; Bruni, V.; Soare, A.; Spagnolo, G.; Manfrini, S.; Gallo, I.; Casella, G.; Castagneto-Gissey, L.; Watanabe, M.; Frontoni, S.; Di Paola, M.; Russo, B.; Bigarelli, P.; Casella-Mariolo, J. R.; Filippi, F.; Leonetti, F.; Di Biasio, A.; Silecchia, G.; Guglielmi, V.; Arcudi, C.; Vitiello, A.; Musella, M.; Schiano, R.; Giardiello, C.; Iovino, M. G.; De Palma, M.; Tolone, S.; Docimo, L.; Renzulli, M.; Pilone, V.; Police, M.; Angrisani, L.; Tagliabue, E.
Canakinumab as first-line biological therapy in Still’s disease and differences between the systemic and the chronic-articular courses: Real-life experience from the international AIDA registry
2022-01-01 Vitale, A.; Caggiano, V.; Maggio, M. C.; Lopalco, G.; Emmi, G.; Sota, J.; La Torre, F.; Ruscitti, P.; Bartoloni, E.; Conti, G.; Fabiani, C.; Mattioli, I.; Gaggiano, C.; Cardinale, F.; Dagna, L.; Campochiaro, C.; Giacomelli, R.; Balistreri, A.; Laskari, K.; Tufan, A.; Ragab, G.; Almaghlouth, I. A.; Wiesik-Szewczyk, E.; Pereira, R. M.; Frediani, B.; Iannone, F.; Sfikakis, P. P.; Cantarini, L.
Bilateral inferior petrosal sinus sampling with human CRH stimulation in ACTH-dependent Cushing's syndrome: results from a retrospective multicenter study
2023-01-01 Detomas, Mario; Ritzel, Katrin; Nasi-Kordhishti, Isabella; Schernthaner-Reiter, Marie Helene; Losa, Marco; Tröger, Viola; Altieri, Barbara; Kroiss, Matthias; Kickuth, Ralph; Fassnacht, Martin; Micko, Alexander; Honegger, Jürgen; Reincke, Martin; Deutschbein, Timo
Replacing Manual Planning of Whole Breast Irradiation With Knowledge-Based Automatic Optimization by Virtual Tangential-Fields Arc Therapy
2021-01-01 Castriconi, R.; Esposito, P. G.; Tudda, A.; Mangili, P.; Broggi, S.; Fodor, A.; Deantoni, C. L.; Longobardi, B.; Pasetti, M.; Perna, L.; Del Vecchio, A.; Di Muzio, N. G.; Fiorino, C.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021-01-01 Leslie, Matalonga; Carles, Hernández-Ferrer; Davide, Piscia; Solve-RD SNV-indel working, Group; Rebecca, Schüle; Matthis, Synofzik; Ana, Töpf; Lisenka E. L. M., Vissers; Richarda De, Voer; Solve-RD, DITF-GENTURIS; Solve-RD, DITF-ITHACA; Solve-RD, DITF-euroNMD; Solve-RD, DITF-RND; Raul, Tonda; Steven, Laurie; Marcos, Fernandez-Callejo; Daniel, Picó; Carles, Garcia-Linares; Anastasios, Papakonstantinou; Alberto, Corvó; Ricky, Joshi; Hector, Diez; Ivo, Gut; Alexander, Hoischen; Holm, Graessner; Sergi, Beltran; Solve-RD, Consortia; Casari, G
Preclinical and clinical characterization of fibroblast-derived neuregulin-1 on trastuzumab and pertuzumab activity in HER2-positive breast cancer
2021-01-01 Guardia, C.; Bianchini, G.; Arpi-LLucia, O.; Menendez, S.; Casadevall, D.; Galbardi, B.; Dugo, M.; Servitja, S.; Montero, J. C.; Soria-Jimenez, L.; Sabbaghi, M. A.; Pena, R.; Madoz-Gurpide, J.; Lloveras, B.; Lluch, A.; Eroles, P.; Arribas, J.; Pandiella, A.; Gianni, L.; Rojo, F.; Rovira, A.; Albanell, J.
Death in hospital following ICU discharge: insights from the LUNG SAFE study
2021-01-01 Fabiana, Madotto; Bairbre, Mcnicholas; Emanuele, Rezoagli; Tài, Pham; John G., Laffey; Giacomo, Bellani; Lung Safe, Investigators; Esicm Trials, Group; Monti, Giacomo
No need for secondary Pneumocystis jirovecii pneumonia prophylaxis in adult people living with HIV from Europe on ART with suppressed viraemia and a CD4 cell count greater than 100 cells/µL
2021-01-01 Andrew, Atkinson; Jose M., Miro; Amanda, Mocroft; Peter, Reiss; Ole, Kirk; Philippe, Morlat; Jade, Ghosn; Christoph, Stephan; Cristina, Mussini; Anastasia, Antoniadou; Katja, Doerholt; Enrico, Girardi; Stéphane De, Wit; David, Kraus; Marcel, Zwahlen; Hansjakob, Furrer; Opportunistic Infections Working Group of the Collaboration of Observational HIV Epidemiological Research Europe (COHERE) study in, Eurocoord; Castagna, A
Pragmatismo come filosofia della prassi e critica della cultura. Riflessioni a partire dal Richard Rorty di Rosa Maria Calcaterra e Sarin Marchetti
2022-01-01 Ariano, Raffaele
Impact of COVID-19 on vascular patients worldwide: Analysis of the COVIDSurg data
2021-01-01 Louise, Hitchman; Matthew, Machin; The Covidsurg, Collaborative; Vascular And Endovascular Research, Network; Elmore, U
Does pathological stage and nodal involvement influence long term oncological outcomes after cross regimen for adenocarcinoma of the esophagogastric junction? A multicenter retrospective analysis
2021-01-01 De Pascale, S.; Parise, P.; Valmasoni, M.; Weindelmayer, J.; Terraneo, F.; Cella, C. A.; Giacopuzzi, S.; Cossu, A.; Massaron, S.; Elmore, U.; Merigliano, S.; Uberto, F. R.
Early outcomes and complications following cardiac surgery in patients testing positive for coronavirus disease 2019: An international cohort study
2021-01-01 Cardiothoracic Interdisciplinary Research, Network; Covidsurg, Collaborative; Elmore, U; Gallo, G
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021-01-01 Elke De, Boer; Charlotte W., Ockeloen; Leslie Matalonga Rita, Horvath; Solve-RD SNV-indel working, Group; Richard J., Rodenburg; Marieke J. H., Coenen; Mirian, Janssen; Dylan, Henssen; Christian, Gilissen; Wouter, Steyaert; Ida, Paramonov; Solve-RD-DITF-ITHACA, ; Aurélien, Trimouille; Tjitske, Kleefstra; Alain, Verloes; Lisenka E. L. M., Vissers; Casari, G
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Clinical effectiveness of olaparib monotherapy in germline BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: phase IIIb LUCY interim analysis | 1-gen-2021 | Gelmon, K. A.; Fasching, P. A.; Couch, F. J.; Balmana, J.; Delaloge, S.; Labidi-Galy, I.; Bennett, J.; Mccutcheon, S.; Walker, G.; O'Shaughnessy, J.; Collaborating, Investigators; Bianchini, G; Santoro, A | |
| ASSISTENZA INFERMIERISTICA DOMICILIARE IN ITALIA AIDOMUS-IT: PRIMO STUDIO NAZIONALE DEL CENTRO DI ECCELLENZA PER LA RICERCA E LO SVILUPPO DELL’INFERMIERISTICA CERSI- FNOPI | 1-gen-2022 | Bagnasco, Annamaria; Alvaro, Rosaria; Lancia, Loreto; Manara, Duilio Fiorenzo; Rasero, Laura; Rocco, Gennaro; Zega, Maurizio; Mangiacavalli, Barbara; Mazzoleni, Beatrice; Sasso, Loredana | |
| Atrial fibrillation recurrences during the blanking period after catheter ablation with the laser balloon technique | 1-gen-2023 | Schiavone, M.; Gasperetti, A.; Martignani, C.; Montemerlo, E.; Ciconte, G.; Ziacchi, M.; Arosio, R.; Piazzi, E.; Spadotto, A.; Ruggiero, D.; Angeletti, A.; Pozzi, M.; Biffi, M.; Rovaris, G.; Forleo, G. B. | |
| L'intelligenza artificiale e la conoscenza di sé | 1-gen-2022 | Girgenti, Giuseppe | |
| Impact of Liver Cirrhosis, Severity of Cirrhosis, and Portal Hypertension on the Difficulty and Outcomes of Laparoscopic and Robotic Major Liver Resections for Primary Liver Malignancies | 1-gen-2024 | Cipriani, F.; Aldrighetti, L.; Ratti, F.; Wu, A. G. R.; Kabir, T.; Scatton, O.; Lim, C.; Zhang, W.; Sijberden, J.; Aghayan, D. L.; Siow, T. F.; Dokmak, S.; Coelho, F. F.; Herman, P.; Marino, M. V.; Mazzaferro, V.; Chiow, A. K. H.; Sucandy, I.; Ivanecz, A.; Choi, S. H.; Lee, J. H.; Gastaca, M.; Vivarelli, M.; Giuliante, F.; Ruzzenente, A.; Yong, C. C.; Yin, M.; Fondevila, C.; Efanov, M.; Morise, Z.; Di Benedetto, F.; Brustia, R.; Dalla Valle, R.; Boggi, U.; Geller, D.; Belli, A.; Memeo, R.; Gruttadauria, S.; Mejia, A.; Park, J. O.; Rotellar, F.; Choi, G. H.; Robles-Campos, R.; Wang, X.; Sutcliffe, R. P.; Pratschke, J.; Lai, E. C. H.; Chong, C. C. N.; D’Hondt, M.; Monden, K.; Lopez-Ben, S.; Kingham, T. P.; Ferrero, A.; Ettorre, G. M.; Cherqui, D.; Liang, X.; Soubrane, O.; Wakabayashi, G.; Troisi, R. I.; Cheung, T. T.; Kato, Y.; Sugioka, A.; Han, H. S.; Long, T. C. D.; Liu, Q.; Liu, R.; Edwin, B.; Fuks, D.; Chen, K. H.; Abu Hilal, M.; Goh, B. K. P. | |
| Peri-operative score for elderly patients with resectable hepatocellular carcinoma | 1-gen-2023 | Conticchio, M.; Inchingolo, R.; Delvecchio, A.; Ratti, F.; Gelli, M.; Anelli, M. F.; Laurent, A.; Vitali, G. C.; Magistri, P.; Assirati, G.; Felli, E.; Wakabayashi, T.; Pessaux, P.; Piardi, T.; Di Benedetto, F.; De'Angelis, N.; Briceno, J.; Rampoldi, A.; Adam, R.; Cherqui, D.; Aldrighetti, L. A.; Memeo, R. | |
| A tetracationic porphyrin with dual anti-prion activity | 1-gen-2023 | Masone, A.; Zucchelli, C.; Caruso, E.; Lavigna, G.; Erana, H.; Giachin, G.; Tapella, L.; Comerio, L.; Restelli, E.; Raimondi, I.; Elezgarai, S. R.; De Leo, F.; Quilici, G.; Taiarol, L.; Oldrati, M.; Lorenzo, N. L.; Garcia-Martinez, S.; Cagnotto, A.; Lucchetti, J.; Gobbi, M.; Vanni, I.; Nonno, R.; Di Bari, M. A.; Tully, M. D.; Cecatiello, V.; Ciossani, G.; Pasqualato, S.; Van Anken, E.; Salmona, M.; Castilla, J.; Requena, J. R.; Banfi, S.; Musco, G.; Chiesa, R. | |
| Advice of General Practitioner, of Surgeon, of Endocrinologist, and Self-determination: the Italian Road to Bariatric Surgery | 1-gen-2022 | Pontiroli, A. E.; Mingrone, G.; Colao, A.; Barrea, L.; Cannavale, G.; Pinna, F.; Ceriani, V.; De Carli, S. M.; Cesana, G.; Olmi, S.; Scolari, G.; Sarro, S.; Sarro, G.; Procopio, C.; Giovanelli, A.; Morricone, L.; Micheletto, G.; Malavazos, A.; Panizzo, V.; Plebani, L.; Zappa, M. A.; Tubazio, I.; Foschi, D.; Capogrossi, S.; Conte, C.; Saibene, A.; Socci, C.; Gozza, M.; Testa, S.; Marinari, G.; Maccatrozzo, S.; Croci, M.; Mozzi, E.; Verrastro, O.; Capristo, E.; Raffaelli, M.; Bruni, V.; Soare, A.; Spagnolo, G.; Manfrini, S.; Gallo, I.; Casella, G.; Castagneto-Gissey, L.; Watanabe, M.; Frontoni, S.; Di Paola, M.; Russo, B.; Bigarelli, P.; Casella-Mariolo, J. R.; Filippi, F.; Leonetti, F.; Di Biasio, A.; Silecchia, G.; Guglielmi, V.; Arcudi, C.; Vitiello, A.; Musella, M.; Schiano, R.; Giardiello, C.; Iovino, M. G.; De Palma, M.; Tolone, S.; Docimo, L.; Renzulli, M.; Pilone, V.; Police, M.; Angrisani, L.; Tagliabue, E. | |
| Canakinumab as first-line biological therapy in Still’s disease and differences between the systemic and the chronic-articular courses: Real-life experience from the international AIDA registry | 1-gen-2022 | Vitale, A.; Caggiano, V.; Maggio, M. C.; Lopalco, G.; Emmi, G.; Sota, J.; La Torre, F.; Ruscitti, P.; Bartoloni, E.; Conti, G.; Fabiani, C.; Mattioli, I.; Gaggiano, C.; Cardinale, F.; Dagna, L.; Campochiaro, C.; Giacomelli, R.; Balistreri, A.; Laskari, K.; Tufan, A.; Ragab, G.; Almaghlouth, I. A.; Wiesik-Szewczyk, E.; Pereira, R. M.; Frediani, B.; Iannone, F.; Sfikakis, P. P.; Cantarini, L. | |
| Bilateral inferior petrosal sinus sampling with human CRH stimulation in ACTH-dependent Cushing's syndrome: results from a retrospective multicenter study | 1-gen-2023 | Detomas, Mario; Ritzel, Katrin; Nasi-Kordhishti, Isabella; Schernthaner-Reiter, Marie Helene; Losa, Marco; Tröger, Viola; Altieri, Barbara; Kroiss, Matthias; Kickuth, Ralph; Fassnacht, Martin; Micko, Alexander; Honegger, Jürgen; Reincke, Martin; Deutschbein, Timo | |
| Replacing Manual Planning of Whole Breast Irradiation With Knowledge-Based Automatic Optimization by Virtual Tangential-Fields Arc Therapy | 1-gen-2021 | Castriconi, R.; Esposito, P. G.; Tudda, A.; Mangili, P.; Broggi, S.; Fodor, A.; Deantoni, C. L.; Longobardi, B.; Pasetti, M.; Perna, L.; Del Vecchio, A.; Di Muzio, N. G.; Fiorino, C. | |
| Solving patients with rare diseases through programmatic reanalysis of genome-phenome data | 1-gen-2021 | Leslie, Matalonga; Carles, Hernández-Ferrer; Davide, Piscia; Solve-RD SNV-indel working, Group; Rebecca, Schüle; Matthis, Synofzik; Ana, Töpf; Lisenka E. L. M., Vissers; Richarda De, Voer; Solve-RD, DITF-GENTURIS; Solve-RD, DITF-ITHACA; Solve-RD, DITF-euroNMD; Solve-RD, DITF-RND; Raul, Tonda; Steven, Laurie; Marcos, Fernandez-Callejo; Daniel, Picó; Carles, Garcia-Linares; Anastasios, Papakonstantinou; Alberto, Corvó; Ricky, Joshi; Hector, Diez; Ivo, Gut; Alexander, Hoischen; Holm, Graessner; Sergi, Beltran; Solve-RD, Consortia; Casari, G | |
| Preclinical and clinical characterization of fibroblast-derived neuregulin-1 on trastuzumab and pertuzumab activity in HER2-positive breast cancer | 1-gen-2021 | Guardia, C.; Bianchini, G.; Arpi-LLucia, O.; Menendez, S.; Casadevall, D.; Galbardi, B.; Dugo, M.; Servitja, S.; Montero, J. C.; Soria-Jimenez, L.; Sabbaghi, M. A.; Pena, R.; Madoz-Gurpide, J.; Lloveras, B.; Lluch, A.; Eroles, P.; Arribas, J.; Pandiella, A.; Gianni, L.; Rojo, F.; Rovira, A.; Albanell, J. | |
| Death in hospital following ICU discharge: insights from the LUNG SAFE study | 1-gen-2021 | Fabiana, Madotto; Bairbre, Mcnicholas; Emanuele, Rezoagli; Tài, Pham; John G., Laffey; Giacomo, Bellani; Lung Safe, Investigators; Esicm Trials, Group; Monti, Giacomo | |
| No need for secondary Pneumocystis jirovecii pneumonia prophylaxis in adult people living with HIV from Europe on ART with suppressed viraemia and a CD4 cell count greater than 100 cells/µL | 1-gen-2021 | Andrew, Atkinson; Jose M., Miro; Amanda, Mocroft; Peter, Reiss; Ole, Kirk; Philippe, Morlat; Jade, Ghosn; Christoph, Stephan; Cristina, Mussini; Anastasia, Antoniadou; Katja, Doerholt; Enrico, Girardi; Stéphane De, Wit; David, Kraus; Marcel, Zwahlen; Hansjakob, Furrer; Opportunistic Infections Working Group of the Collaboration of Observational HIV Epidemiological Research Europe (COHERE) study in, Eurocoord; Castagna, A | |
| Pragmatismo come filosofia della prassi e critica della cultura. Riflessioni a partire dal Richard Rorty di Rosa Maria Calcaterra e Sarin Marchetti | 1-gen-2022 | Ariano, Raffaele | |
| Impact of COVID-19 on vascular patients worldwide: Analysis of the COVIDSurg data | 1-gen-2021 | Louise, Hitchman; Matthew, Machin; The Covidsurg, Collaborative; Vascular And Endovascular Research, Network; Elmore, U | |
| Does pathological stage and nodal involvement influence long term oncological outcomes after cross regimen for adenocarcinoma of the esophagogastric junction? A multicenter retrospective analysis | 1-gen-2021 | De Pascale, S.; Parise, P.; Valmasoni, M.; Weindelmayer, J.; Terraneo, F.; Cella, C. A.; Giacopuzzi, S.; Cossu, A.; Massaron, S.; Elmore, U.; Merigliano, S.; Uberto, F. R. | |
| Early outcomes and complications following cardiac surgery in patients testing positive for coronavirus disease 2019: An international cohort study | 1-gen-2021 | Cardiothoracic Interdisciplinary Research, Network; Covidsurg, Collaborative; Elmore, U; Gallo, G | |
| A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis | 1-gen-2021 | Elke De, Boer; Charlotte W., Ockeloen; Leslie Matalonga Rita, Horvath; Solve-RD SNV-indel working, Group; Richard J., Rodenburg; Marieke J. H., Coenen; Mirian, Janssen; Dylan, Henssen; Christian, Gilissen; Wouter, Steyaert; Ida, Paramonov; Solve-RD-DITF-ITHACA, ; Aurélien, Trimouille; Tjitske, Kleefstra; Alain, Verloes; Lisenka E. L. M., Vissers; Casari, G |
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