Sfoglia per Rivista GENETICS IN MEDICINE
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
2018 Robbe, P.; Popitsch, N.; Knight, S. J. L.; Antoniou, P.; Becq, J.; He, M.; Kanapin, A.; Samsonova, A.; Vavoulis, D. V.; Ross, M. T.; Kingsbury, Z.; Cabes, M.; Ramos, S. D. C.; Page, S.; Dreau, H.; Ridout, K.; Jones, L. J.; Tuff-Lacey, A.; Henderson, S.; Mason, J.; Buffa, F. M.; Verrill, C.; Maldonado-Perez, D.; Roxanis, I.; Collantes, E.; Browning, L.; Dhar, S.; Damato, S.; Davies, S.; Caulfield, M.; Bentley, D. R.; Taylor, J. C.; Turnbull, C.; Schuh, A.
Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis
2023 Busnelli, Andrea; Ciani, Oriana; Caroselli, Silvia; Figliuzzi, Matteo; Poli, Maurizio; Levi-Setti, Paolo Emanuele; Tarricone, Rosanna; Capalbo, Antonio
International clinical evidence-based guideline for Kleefstra syndrome
2026 Bouman, Arianne; Gaasterland, Charlotte M. W.; Sloof-Enthoven, Carla; Draksler, Tanja Zdolsek; Rots, Dmitrijs; Vermeulen-Kalk, Karlijn; Geelen, Joyce M.; Morison, Lottie D.; Morgan, Angela T.; Wicher, Dorota; Rivero, Sabrina; Fernández-Ulibarri, Inés; Drake, Julie; O'Donnell Luria, Anne; Pickup, Laura; Shalhoub, Carolyn; Milani, Donatella; Hennekam, Raoul C.; Tumiene, Birute; Dies, Kira A.; Garavelli, Livia; Bedeschi, Maria Francesca; Danieli, Alberto; Van Renssen, Lara V.; Palmer, Elizabeth E.; Grosdemouge, Isabelle; Hadzsiev, Kinga; Ousager, Lilian Bomme; Frazier, Zoë; Chopra, Maya; Szakszon, Katalin; Ewans, Lisa; Srivastava, Siddharth; Balbo, Nicoletta; Caterino, Ettore; Schenck, Annette; Smith, Ryan; Boonstra, F. Nienke; Van Till, Sietske A. L.; Vasireddi, Sunil K.; Brian Chung, Hon-Yin; Klein Haneveld, Mirthe J.; Vyshka, Klea; Hugon, A.; Van Eeghen, A. M.; Gaasterland, C. M. W.; Szakszon, K.; Vyshka, Klea; Haneveld, M. J. Klein; Kleefstra, Tjitske
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project | 1-gen-2018 | Robbe, P.; Popitsch, N.; Knight, S. J. L.; Antoniou, P.; Becq, J.; He, M.; Kanapin, A.; Samsonova, A.; Vavoulis, D. V.; Ross, M. T.; Kingsbury, Z.; Cabes, M.; Ramos, S. D. C.; Page, S.; Dreau, H.; Ridout, K.; Jones, L. J.; Tuff-Lacey, A.; Henderson, S.; Mason, J.; Buffa, F. M.; Verrill, C.; Maldonado-Perez, D.; Roxanis, I.; Collantes, E.; Browning, L.; Dhar, S.; Damato, S.; Davies, S.; Caulfield, M.; Bentley, D. R.; Taylor, J. C.; Turnbull, C.; Schuh, A. | GENETICS IN MEDICINE | - |
| Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis | 1-gen-2023 | Busnelli, Andrea; Ciani, Oriana; Caroselli, Silvia; Figliuzzi, Matteo; Poli, Maurizio; Levi-Setti, Paolo Emanuele; Tarricone, Rosanna; Capalbo, Antonio | GENETICS IN MEDICINE | - |
| International clinical evidence-based guideline for Kleefstra syndrome | 1-gen-2026 | Bouman, Arianne; Gaasterland, Charlotte M. W.; Sloof-Enthoven, Carla; Draksler, Tanja Zdolsek; Rots, Dmitrijs; Vermeulen-Kalk, Karlijn; Geelen, Joyce M.; Morison, Lottie D.; Morgan, Angela T.; Wicher, Dorota; Rivero, Sabrina; Fernández-Ulibarri, Inés; Drake, Julie; O'Donnell Luria, Anne; Pickup, Laura; Shalhoub, Carolyn; Milani, Donatella; Hennekam, Raoul C.; Tumiene, Birute; Dies, Kira A.; Garavelli, Livia; Bedeschi, Maria Francesca; Danieli, Alberto; Van Renssen, Lara V.; Palmer, Elizabeth E.; Grosdemouge, Isabelle; Hadzsiev, Kinga; Ousager, Lilian Bomme; Frazier, Zoë; Chopra, Maya; Szakszon, Katalin; Ewans, Lisa; Srivastava, Siddharth; Balbo, Nicoletta; Caterino, Ettore; Schenck, Annette; Smith, Ryan; Boonstra, F. Nienke; Van Till, Sietske A. L.; Vasireddi, Sunil K.; Brian Chung, Hon-Yin; Klein Haneveld, Mirthe J.; Vyshka, Klea; Hugon, A.; Van Eeghen, A. M.; Gaasterland, C. M. W.; Szakszon, K.; Vyshka, Klea; Haneveld, M. J. Klein; Kleefstra, Tjitske | GENETICS IN MEDICINE | - |
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