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Items: 1 to 20 of 51

1.
Manuela Schubert Baldo, Célia Nogueira, Cristina Pereira, Patrícia Janeiro, Sara Ferreira, Charles M. Lourenço, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho
Genes (Basel) 2023 Aug; 14(8): 1536. Published online 2023 Jul 27. doi: 10.3390/genes14081536
PMCID:
PMC10454233
2.
Ayane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, Rumiko Izumi, Haruka Sato, Hideaki Suzuki, Atsuhito Takeda, Yasushi Okazaki, Yukiko Yatsuka, Takaaki Abe, Kei Murayama, Naoto Sugeno, Tatsuro Misu, Masashi Aoki
Intern Med. 2023 Jul 1; 62(13): 1995–1998. Published online 2022 Dec 21. doi: 10.2169/internalmedicine.0773-22
PMCID:
PMC10372267
3.
Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, Maria Sumina, Natalia Pechatnikova, Sergey Kurbatov, Fatima Bostanova, Ochir Migiaev, Ekaterina Zakharova
Int J Mol Sci. 2023 Jan; 24(2): 1597. Published online 2023 Jan 13. doi: 10.3390/ijms24021597
PMCID:
PMC9865855
4.
Piervito Lopriore, Fábio Gomes, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso
Int J Mol Sci. 2022 Nov; 23(21): 13216. Published online 2022 Oct 30. doi: 10.3390/ijms232113216
PMCID:
PMC9656379
5.
Meriem Hechmi, Majida Charif, Ichraf Kraoua, Meriem Fassatoui, Hamza Dallali, Valerie Desquiret-Dumas, Céline Bris, David Goudenège, Cyrine Drissi, Saïd Galaï, Slah Ouerhani, Vincent Procaccio, Patrizia Amati-Bonneau, Sonia Abdelhak, Ilhem Ben Youssef-Turki, Guy Lenaers, Rym Kefi
Biosci Rep. 2022 Sep 30; 42(9): BSR20220194. Published online 2022 Sep 21. doi: 10.1042/BSR20220194
PMCID:
PMC9508526
6.
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A. Walker, Lauren C. Briere, Amélie Bourhis, Marc Blondel, Charles LeDuc, Jacob Hagen, Cathleen Cooper, Colleen Muraresku, Claude Ferec, Armelle Garenne, Servane Lelez-Soquet, Cassandra A. Rogers, Yufeng Shen, Dana K. Strode, Peyman Bizargity, Alejandro Iglesias, Amy Goldstein, Frances A. High, Undiagnosed Diseases Network, David A. Sweetser, Rebecca Ganetzky, Johan L.K. Van Hove, Vincent Procaccio, Cedric Le Marechal, Wendy K Chung
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2022 Sep; 45(5): 996–1012. Published online 2022 Jul 11. doi: 10.1002/jimd.12526
PMCID:
PMC9474623
7.
Vincenzo Tragni, Guido Primiano, Albina Tummolo, Lucas Cafferati Beltrame, Gianluigi La Piana, Maria Noemi Sgobba, Maria Maddalena Cavalluzzi, Giulia Paterno, Ruggiero Gorgoglione, Mariateresa Volpicella, Lorenzo Guerra, Domenico Marzulli, Serenella Servidei, Anna De Grassi, Giuseppe Petrosillo, Giovanni Lentini, Ciro Leonardo Pierri
Molecules. 2022 Jun; 27(11): 3494. Published online 2022 May 29. doi: 10.3390/molecules27113494
PMCID:
PMC9182050
8.
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa-Tominaga, Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Imai-Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Arch Dis Child Fetal Neonatal Ed. 2022 May; 107(3): 329–334. Published online 2021 Oct 7. doi: 10.1136/archdischild-2021-321633
PMCID:
PMC9046829
9.
Melissa A E van de Wal, Merel J W Adjobo-Hermans, Jaap Keijer, Tom J J Schirris, Judith R Homberg, Mariusz R Wieckowski, Sander Grefte, Evert M van Schothorst, Clara van Karnebeek, Albert Quintana, Werner J H Koopman
Brain. 2022 Jan; 145(1): 45–63. Published online 2021 Nov 29. doi: 10.1093/brain/awab426
PMCID:
PMC8967107
10.
Emine Begüm Gencer Öncül, Duygu Duman, Fatma Tuba Eminoğlu, Süleyman Aktuna, Mustafa Türker Duman
Balkan Med J. 2022 Mar; 39(2): 96–106. Published online 2022 Mar 14. doi: 10.5152/balkanmedj.2021.21141
PMCID:
PMC8941229
11.
Massimo Zeviani, Carlo Viscomi
Cells. 2022 Feb; 11(4): 637. Published online 2022 Feb 11. doi: 10.3390/cells11040637
PMCID:
PMC8870525
12.
Massimo Zeviani, Valerio Carelli
Int J Mol Sci. 2022 Jan; 23(1): 210. Published online 2021 Dec 25. doi: 10.3390/ijms23010210
PMCID:
PMC8745158
13.
Katherine R Schon, Rita Horvath, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibañez, Thiloka Ratnaike, Robert D S Pitceathly, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Emma Clement, Emma Ashton, John A Sayer, Paul Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah F Smithson, Richard Festenstein, Natalie Canham, Mark Caulfield, Henry Houlden, Shamima Rahman(, Patrick F Chinnery, Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Mark J Caulfield, Georgia C Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J P Hubbard, Rob Jackson, Louise J Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, Fiona Maleady-Crowe, Meriel McEntegart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C Need, Peter O’Donovan, Chris A Odhams, Christine Patch, Mariana Buonerimo Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H Scott, Afshan Siddiq, Alexander Sieghart, Samuel C Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R A Thomas, Simon R Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood
BMJ. 2021; 375: e066288. Published online 2021 Nov 4. doi: 10.1136/bmj-2021-066288
PMCID:
PMC8565085
14.
Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati
AJNR Am J Neuroradiol. 2003 Jun; 24(6): 1188–1191.
PMCID:
PMC8148997
15.
Elizabeth A. Perry, Christopher F. Bennett, Chi Luo, Eduardo Balsa, Mark Jedrychowski, Katherine O’Malley, Pedro Latorre-Muro, Richard Porter Ladley, Kamar Reda, Peter M. Wright, Steve P. Gygi, Andrew G. Myers, Pere Puigserver
Nat Metab.
Published in final edited form as: Nat Metab. 2021 Jan; 3(1): 33–42. Published online 2021 Jan 18. doi: 10.1038/s42255-020-00334-y
PMCID:
PMC7856165
16.
Mouna Habbane, Laura Llobet, M. Pilar Bayona-Bafaluy, José E. Bárcena, Leticia Ceberio, Covadonga Gómez-Díaz, Laura Gort, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini
Genes (Basel) 2020 Sep; 11(9): 1007. Published online 2020 Aug 27. doi: 10.3390/genes11091007
PMCID:
PMC7565518
17.
Mohd Fazirul Mustafa, Sharida Fakurazi, Maizaton Atmadini Abdullah, Sandra Maniam
Genes (Basel) 2020 Feb; 11(2): 192. Published online 2020 Feb 12. doi: 10.3390/genes11020192
PMCID:
PMC7074468
18.
Xueli Chang, Yaxin Wu, Jie Zhou, Huaxing Meng, Wei Zhang, Junhong Guo
Medicine (Baltimore) 2020 Jan; 99(5): e18634. Published online 2020 Jan 31. doi: 10.1097/MD.0000000000018634
PMCID:
PMC7004636
19.
Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C. Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz-Gonzalez, Meredith G. Ellington, William C. Copeland, Marni J. Falk
PLoS One. 2019; 14(9): e0221829. Published online 2019 Sep 3. doi: 10.1371/journal.pone.0221829
PMCID:
PMC6719858
20.
Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloglu, Ivo Baric, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A.M. Morris, Grace Vassallo, Grainne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez-Koref, Robert McFarland, Rita Horvath, Patrick F. Chinnery
JAMA.
Published in final edited form as: JAMA. 2014 Jul 2; 312(1): 68–77. doi: 10.1001/jama.2014.7184
PMCID:
PMC6558267

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