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Items: 1 to 20 of 41

1.
Silvia Esposito, Gianluca Marucci, Manila Antonelli, Evelina Miele, Piergiorgio Modena, Marzia Giagnacovo, Maura Massimino, Veronica Biassoni, Matilde Taddei, Marco Paolo Schiariti, Fabio Martino Doniselli, Marco Moscatelli, Luisa Chiapparini, Bianca Pollo
Diagnostics (Basel) 2022 Oct; 12(10): 2367. Published online 2022 Sep 29. doi: 10.3390/diagnostics12102367
PMCID:
PMC9601199
2.
Sho Takata, Akira Tamase, Yasuhiko Hayashi, Osamu Tachibana, Katsuaki Sato, Hideaki Iizuka
J Neurosurg Case Lessons. 2021 Oct 4; 2(14): CASE21107. Published online 2021 Oct 4. doi: 10.3171/CASE21107
PMCID:
PMC9563953
3.
Angus Toland, Samantha N. McNulty, Melike Pekmezci, Michael Evenson, Kristin Huntoon, Christopher R. Pierson, Daniel R. Boue, Arie Perry, Sonika Dahiya
Brain Pathol. 2020 Nov; 30(6): 1134–1143. Published online 2020 Aug 6. doi: 10.1111/bpa.12884
PMCID:
PMC8018050
4.
D Evans, J Birch, R Ramsden
Arch Dis Child. 1999 Dec; 81(6): 496–499. doi: 10.1136/adc.81.6.496
PMCID:
PMC1718148
5.
Xuan Zheng, Shaolei Guo, Dawei Liu, Jianping Chu, Yongfu Li, Xiaoxuan Wang, Xing Zhang, Chao Song, Quan Huang
BMC Pediatr. 2022; 22: 694. Published online 2022 Dec 3. doi: 10.1186/s12887-022-03747-8
PMCID:
PMC9719181
6.
Elizaveta I. Safronova, Suzanna A. Galstyan, Yury V. Kushel
Chin Neurosurg J. 2022; 8: 28. Published online 2022 Sep 14. doi: 10.1186/s41016-022-00299-9
PMCID:
PMC9472336
7.
Bhawan Nangarwal, Suyash Singh, Shruti Sinha, Kamlesh S Bhaisora, Jayesh Sardhara, Kuntal K. Das, Anant Mehrotra, Arun K. Srivastava, Shakti Desh, Awadhesh K. Jaiswal, Sanjay Behari
J Pediatr Neurosci. 2021 Apr-Jun; 16(2): 125–130. Published online 2021 Jul 2. doi: 10.4103/jpn.JPN_70_20
PMCID:
PMC8706583
8.
Chinmaya Dash, Ribhav Pasricha, Hitesh Gurjar, Pankaj Kumar Singh, Bhawani Shankar Sharma
J Pediatr Neurosci. 2016 Jul-Sep; 11(3): 193–196. doi: 10.4103/1817-1745.193356
PMCID:
PMC5108119
9.
Wilfred C Mezue, Samuel C Ohaegbulam, Chika C Ndubuisi, Mark C Chikani, David S Achebe
J Neurosci Rural Pract. 2012 Sep-Dec; 3(3): 320–323. doi: 10.4103/0976-3147.102613
PMCID:
PMC3505324
10.
Nirav Mehta, Sanat Bhagwati, Geeta Parulekar
J Pediatr Neurosci. 2009 Jul-Dec; 4(2): 61–65. doi: 10.4103/1817-1745.57322
PMCID:
PMC3162790
11.
Rakesh Ranjan, Shrividya Sethuraman
J Pediatr Neurosci. 2010 Jul-Dec; 5(2): 141–143. doi: 10.4103/1817-1745.76114
PMCID:
PMC3087994
12.
Srirupa Bhattacharyya, Janet L Oblinger, Roberta L Beauchamp, Zhenzhen Yin, Serkan Erdin, Priya Koundinya, Anna D Ware, Marc Ferrer, Justin T Jordan, Scott R Plotkin, Lei Xu, Long-Sheng Chang, Vijaya Ramesh
Neuro Oncol. 2023 Sep; 25(9): 1617–1630. Published online 2023 Feb 20. doi: 10.1093/neuonc/noad037
PMCID:
PMC10479743
13.
Thomas Hielscher, Martin Sill, Philipp Sievers, Damian Stichel, Sebastian Brandner, David T. W. Jones, Andreas von Deimling, Felix Sahm, Sybren L. N. Maas
Brain Pathol. 2023 May; 33(3): e13132. Published online 2022 Nov 14. doi: 10.1111/bpa.13132
PMCID:
PMC10154374
14.
Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K. Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Baran, Leman Sencar, Nukte Goc, Yanki Yarman, A. Gulhan Ercan-Sencicek, Kaya Bilguvar, Richard P. Lifton, Jennifer Moliterno, Angeliki Louvi, Shiaulou Yuan, Engin Deniz, Martina Brueckner, Murat Gunel
Proc Natl Acad Sci U S A. 2023 Apr 18; 120(16): e2214997120. Published online 2023 Apr 12. doi: 10.1073/pnas.2214997120
PMCID:
PMC10120005
15.
Lisa Milchram, Ronald Kulovics, Markus Sonntagbauer, Silvia Schönthaler, Klemens Vierlinger, Christian Dorfer, Charles Cameron, Okay Saydam, Andreas Weinhäusel
Int J Mol Sci. 2023 Jan; 24(2): 1411. Published online 2023 Jan 11. doi: 10.3390/ijms24021411
PMCID:
PMC9866115
16.
Roberto Paparella, Anna Maria Caroleo, Emanuele Agolini, Giovanni Chillemi, Evelina Miele, Lucia Pedace, Martina Rinelli, Simone Pizzi, Luigi Boccuto, Giovanna Stefania Colafati, Mariachiara Lodi, Antonella Cacchione, Andrea Carai, Maria Cristina Digilio, Paolo Tomà, Marco Tartaglia, Angela Mastronuzzi
Am J Med Genet A. 2022 Sep; 188(9): 2796–2802. Published online 2022 Jun 11. doi: 10.1002/ajmg.a.62869
PMCID:
PMC9543264
17.
Neevika Manoharan, Pamela Ajuyah, Akanksha Senapati, Marie Wong, Anna Mullins, Michael Rodriguez, Helen Doyle, Geoff McCowage, Loretta M. S. Lau, Paul G. Ekert, David S. Ziegler
Acta Neuropathol Commun. 2021; 9: 147. Published online 2021 Sep 7. doi: 10.1186/s40478-021-01248-w
PMCID:
PMC8422739
18.
Long-Sheng Chang, Janet L. Oblinger, Abbi E. Smith, Marc Ferrer, Steven P. Angus, Eric Hawley, Alejandra M. Petrilli, Roberta L. Beauchamp, Lars Björn Riecken, Serkan Erdin, Ming Poi, Jie Huang, Waylan K. Bessler, Xiaohu Zhang, Rajarshi Guha, Craig Thomas, Sarah S. Burns, Thomas S. K. Gilbert, Li Jiang, Xiaohong Li, Qingbo Lu, Jin Yuan, Yongzheng He, Shelley A. H. Dixon, Andrea Masters, David R. Jones, Charles W. Yates, Stephen J. Haggarty, Salvatore La Rosa, D. Bradley Welling, Anat O. Stemmer-Rachamimov, Scott R. Plotkin, James F. Gusella, Justin Guinney, Helen Morrison, Vijaya Ramesh, Cristina Fernandez-Valle, Gary L. Johnson, Jaishri O. Blakeley, D. Wade Clapp, on behalf of the Synodos for NF2 Consortium
PLoS One. 2021; 16(7): e0252048. Published online 2021 Jul 15. doi: 10.1371/journal.pone.0252048
PMCID:
PMC8282008
19.
Claire Forde, Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon R Freeman, Omar N Pathmanaban, Emma Stapleton, Owen M Thomas, Roger D Laitt, Stavros Stivaros, John-Paul Kilday, Grace Vassallo, Catherine McBain, Simon Kerrigan, Miriam J Smith, Martin G McCabe, Elaine F Harkness, D Gareth Evans
Neuro Oncol. 2021 Jul; 23(7): 1113–1124. Published online 2020 Dec 18. doi: 10.1093/neuonc/noaa284
PMCID:
PMC8248850
20.
Laura Castilla-Vallmanya, Kaja K. Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Sandra Yang, Margot R. F. Reijnders, Antonie J. van Essen, Myriam Oufadem, Magnus D. Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton-Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria Sanders, Joel Charrow, Emily Bryant, John Millichap, Antonio Vitobello, Christel Thauvin, Frederic Tran Mau-Them, Laurence Faivre, Gaetan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine M. Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Aly, Anna Lehman, Lorne Clarke, Luitgard Graul-Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozic, Ingvild Aukrust, Ryan Peretz, Robert Stratton, Thomas Smol, Anne Dieux-Coëslier, Joanna Meira, Elizabeth Wohler, Nara Sobreira, Erin M. Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa A. Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens-Frederikse, Dawn L. Earl, Victoria M. Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell-Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Y. Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bole-Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier-Daire, Susanna Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon
Genet Med.
Published in final edited form as: Genet Med. 2020 Jul; 22(7): 1215–1226. Published online 2020 May 7. doi: 10.1038/s41436-020-0792-7
PMCID:
PMC8093014

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