11. Genomic and Genetic Disorders Biobank. (20th March 2015) Authors: Fusco, Carmela; Micale, Lucia; Pellico, Maria Teresa; D'Addetta, Ester Valentina; Augello, Bartolomeo; Mandriani, Barbara; De Nittis, Pasquelena; Cocciadiferro, Dario; Malerba, Natascia; Sacco, Michele; Zelante, Leopoldo; Merla, Giuseppe Journal: Open journal of bioresources Issue: Volume 2(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Issue 1 (2nd January 2016) Authors: Klionsky, Daniel J; Abdelmohsen, Kotb; Abe, Akihisa; Abedin, Md Joynal; Abeliovich, Hagai; Acevedo Arozena, Abraham; Adachi, Hiroaki; Adams, Christopher M; Adams, Peter D; Adeli, Khosrow; Adhihetty, Peter J; Adler, Sharon G; Agam, Galila; Agarwal, Rajesh; Aghi, Manish K; Agnello, Maria; Agostinis... Journal: Autophagy Issue: Volume 12:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Kabuki syndrome: international consensus diagnostic criteria. Issue 2 (4th December 2018) Authors: Adam, Margaret P; Banka, Siddharth; Bjornsson, Hans T; Bodamer, Olaf; Chudley, Albert E; Harris, Jaqueline; Kawame, Hiroshi; Lanpher, Brendan C; Lindsley, Andrew W; Merla, Giuseppe; Miyake, Noriko; Okamoto, Nobuhiko; Stumpel, Constanze T; Niikawa, Norio Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Issue 7 (9th April 2014) Authors: Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola;... Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. PIGN encephalopathy: Characterizing the epileptology. Issue 4 (18th February 2022) Authors: Bayat, Allan; de Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carl... Journal: Epilepsia Issue: Volume 63:Issue 4(2022) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease. Issue 4 (April 2014) Authors: Alfaiz, Ali Abdullah; Micale, Lucia; Mandriani, Barbara; Augello, Bartolomeo; Pellico, Maria Teresa; Chrast, Jacqueline; Xenarios, Ioannis; Zelante, Leopoldo; Merla, Giuseppe; Reymond, Alexandre Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks. Issue 1 (December 2016) Authors: Baldo, Chiara; Casareto, Lorena; Renieri, Alessandra; Merla, Giuseppe; Garavaglia, Barbara; Goldwurm, Stefano; Pegoraro, Elena; Moggio, Maurizio; Mora, Marina; Politano, Luisa; Sangiorgi, Luca; Mazzotti, Raffaella; Viotti, Valeria; Meloni, Ilaria; Pellico, Maria; Barzaghi, Chiara; Wang, Chiuhui; ... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. The epileptology of GNB5 encephalopathy. (20th October 2019) Authors: Poke, Gemma; King, Chontelle; Muir, Alison; de Valles‐Ibáñez, Guillem; Germano, Michele; Moura de Souza, Carolina F.; Fung, Jasmine; Chung, Brian; Fung, Cheuk Wing; Mignot, Cyril; Ilea, Adina; Keren, Boris; Vermersch, Anne‐Isabelle; Davis, Suzanne; Stanley, Thorsten; Moharir, Mahendranath; Kannu,... Journal: Epilepsia Issue: Volume 60:issue 11(2019) Page Start: e121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗