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Material Type: Artigo
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DIAGNOSTIC YIELD OF AN INHERITED RETINAL DISEASE GENE PANEL IN RETINOPATHY OF UNKNOWN ORIGINAbramowicz, Stéphane ; Meunier, Audrey ; Postelmans, Laurence ; Caspers, Laure ; Corazza, Francis ; De Bruyne, Marieke ; Van de Sompele, Stijn ; De Baere, Elfride ; Leroy, Bart P. ; Willermain, François ; Draganova, DafinaRetina (Philadelphia, Pa.), 2024-09, Vol.44 (9), p.1597-1607 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Dataset
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Additional file 3 of Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal diseaseDueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon ; Wood, Katherine A ; Van den Broeck, Filip ; Daich Varela, Malena ; Thomas, Huw B ; Van Heetvelde, Mattias ; De Bruyne, Marieke ; Van de Sompele, Stijn ; Bauwens, Miriam ; Lenaerts, Hanne ; Mahieu, Quinten ; Josifova, Dragana ; Rivolta, Carlo ; O’Keefe, Raymond T ; Ellingford, Jamie ; Webster, Andrew R ; Arno, Gavin ; Ayuso, Carmen ; De Zaeytijd, Julie ; Leroy, Bart P ; De Baere, Elfride ; Coppieters, Fraukefigshare 2024Texto completo disponível |
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Material Type: Dataset
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Additional file 1 of Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal diseaseDueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon ; Wood, Katherine A ; Van den Broeck, Filip ; Daich Varela, Malena ; Thomas, Huw B ; Van Heetvelde, Mattias ; De Bruyne, Marieke ; Van de Sompele, Stijn ; Bauwens, Miriam ; Lenaerts, Hanne ; Mahieu, Quinten ; Josifova, Dragana ; Rivolta, Carlo ; O’Keefe, Raymond T ; Ellingford, Jamie ; Webster, Andrew R ; Arno, Gavin ; Ayuso, Carmen ; De Zaeytijd, Julie ; Leroy, Bart P ; De Baere, Elfride ; Coppieters, Fraukefigshare 2024Texto completo disponível |
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Material Type: Artigo
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Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision InstituteCalzetti, Giacomo ; Schwarzwälder, Kerstin ; Ottonelli, Giorgia ; Kaminska, Karolina ; Strauss, Rupert Wolfgang ; Baere, Elfride De ; Leroy, Bart P. ; Audo, Isabelle ; Zeitz, Christina ; Cursiefen, Claus ; Stingl, Katarina ; Boon, Camiel J.F. ; Marques, João Pedro ; Santos, Cristina ; Ayuso Garcia, Carmen ; Escher, Pascal ; Cordeiro, M. Francesca ; D'Esposito, Fabiana ; Charbel Issa, Peter ; Lotery, Andrew ; Lin, Siying ; Michaelides, Michel ; Rivolta, Carlo ; Scholl, Hendrik P.N.Ophthalmic research, 2024-07, Vol.67 (1), p.448 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyIgelman, Austin D ; White, Elizabeth ; Tayyib, Alaa ; Everett, Lesley ; Vincent, Ajoy ; Heon, Elise ; Zeitz, Christina ; Michaelides, Michel ; Mahroo, Omar A ; Katta, Mohamed ; Webster, Andrew ; Preising, Markus ; Lorenz, Birgit ; Khateb, Samer ; Banin, Eyal ; Sharon, Dror ; Luski, Shahar ; Van Den Broeck, Filip ; Leroy, Bart Peter ; De Baere, Elfride ; Walraedt, Sophie ; Stingl, Katarina ; Kuehlewein, Laura ; Kohl, Susanne ; Reith, Milda ; Fulton, Anne ; Raghuram, Aparna ; Meunier, Isabelle ; Dollfus, Hélène ; Aleman, Tomas S ; Bedoukian, Emma C ; O'Neil, Erin C ; Krauss, Emily ; Vincent, Andrea ; Jordan, Charlotte ; Iannaccone, Alessandro ; Sen, Parveen ; Sundaramurthy, Srilekha ; Nagasamy, Soumittra ; Balikova, Irina ; Casteels, Ingele ; Borooah, Shyamanga ; Yassin, Shaden ; Nagiel, Aaron ; Schwartz, Hillary ; Zanlonghi, Xavier ; Gottlob, Irene ; McLean, Rebecca J ; Munier, Francis L ; Stephenson, Andrew ; Sisk, Robert ; Koenekoop, Robert ; Wilson, Lorri B ; Fredrick, Douglas ; Choi, Dongseok ; Yang, Paul ; Pennesi, Mark EdwardBMJ Publishing Group 2024-07Texto completo disponível |
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Material Type: Artigo
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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyIgelman, Austin D ; White, Elizabeth ; Tayyib, Alaa ; Everett, Lesley ; Vincent, Ajoy ; Heon, Elise ; Zeitz, Christina ; Michaelides, Michel ; Mahroo, Omar A ; Katta, Mohamed ; Webster, Andrew ; Preising, Markus ; Lorenz, Birgit ; Khateb, Samer ; Banin, Eyal ; Sharon, Dror ; Luski, Shahar ; Van Den Broeck, Filip ; Leroy, Bart Peter ; De Baere, Elfride ; Walraedt, Sophie ; Stingl, Katarina ; Kuehlewein, Laura ; Kohl, Susanne ; Reith, Milda ; Fulton, Anne ; Raghuram, Aparna ; Meunier, Isabelle ; Dollfus, Hélène ; Aleman, Tomas S ; Bedoukian, Emma C ; O'Neil, Erin C ; Krauss, Emily ; Vincent, Andrea ; Jordan, Charlotte ; Iannaccone, Alessandro ; Sen, Parveen ; Sundaramurthy, Srilekha ; Nagasamy, Soumittra ; Balikova, Irina ; Casteels, Ingele ; Borooah, Shyamanga ; Yassin, Shaden ; Nagiel, Aaron ; Schwartz, Hillary ; Zanlonghi, Xavier ; Gottlob, Irene ; McLean, Rebecca J ; Munier, Francis L ; Stephenson, Andrew ; Sisk, Robert ; Koenekoop, Robert ; Wilson, Lorri B ; Fredrick, Douglas ; Choi, Dongseok ; Yang, Paul ; Pennesi, Mark EdwardBritish journal of ophthalmology, 2024-07, p.bjo-2023-323747 [Periódico revisado por pares]BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Society for Immunotherapy of Cancer (SITC) recommendations on intratumoral immunotherapy clinical trials (IICT): from premalignant to metastatic diseaseLuke, Jason J ; Davar, Diwakar ; Andtbacka, Robert H ; Bhardwaj, Nina ; Brody, Joshua D ; Chesney, Jason ; Coffin, Robert ; de Baere, Thierry ; de Gruijl, Tanja D ; Fury, Matthew ; Goldmacher, Gregory ; Harrington, Kevin J ; Kaufman, Howard ; Kelly, Ciara M ; Khilnani, Anuradha D ; Liu, Ke ; Loi, Sherene ; Long, Georgina V ; Melero, Ignacio ; Middleton, Mark ; Neyns, Bart ; Pinato, David J ; Sheth, Rahul A ; Solomon, Stephen B ; Szapary, Philippe ; Marabelle, AurelienJournal for immunotherapy of cancer, 2024-04, Vol.12 (4), p.e008378 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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The Added Value of Transcatheter CT Hepatic Angiography (CTHA) Image Guidance in Percutaneous Thermal Liver Ablation: An Experts' Opinion Pictorial EssayPuijk, Robbert S ; Dijkstra, Madelon ; van der Lei, Susan ; Schulz, Hannah H ; Vos, Danielle J W ; Timmer, Florentine E F ; Geboers, Bart ; Scheffer, Hester J ; de Vries, Jan J J ; Smits, Maarten L J ; Bruijnen, Rutger C G ; Deschamps, Frédéric ; de Baère, Thierry ; Odisio, Bruno C ; Meijerink, Martijn RCancers, 2024-03, Vol.16 (6), p.1193 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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The Added Value of Transcatheter CT Hepatic Angiography (CTHA) Image Guidance in Percutaneous Thermal Liver Ablation: An Experts’ Opinion Pictorial EssayPuijk, Robbert S ; Dijkstra, Madelon ; van der Lei, Susan ; Schulz, Hannah H ; Vos, Danielle J.W ; Timmer, Florentine E.F ; Geboers, Bart ; Scheffer, Hester J ; de Vries, Jan J.J ; Smits, Maarten L.J ; Bruijnen, Rutger C.G ; Deschamps, Frédéric ; de Baère, Thierry ; Odisio, Bruno C ; Meijerink, Martijn R2024-03Texto completo disponível |
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Material Type: Artigo
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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionBauwens, Miriam ; Celik, Elifnaz ; Zur, Dinah ; Lin, Siying ; Quinodoz, Mathieu ; Michaelides, Michel ; Webster, Andrew R ; Van Den Broeck, Filip ; Leroy, Bart P ; Rizel, Leah ; Moye, Abigail R ; Meunier, Audrey ; Tran, Hoai Viet ; Moulin, Alexandre P ; Mahieu, Quinten ; Van Heetvelde, Mattias ; Arno, Gavin ; Rivolta, Carlo ; De Baere, Elfride ; Ben-Yosef, TamarElsevier 2024-02Texto completo disponível |