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Items: 1 to 20 of 58

1.
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y
PMCID:
PMC10319691
2.
Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease
Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067
PMCID:
PMC9651608
3.
Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Genes (Basel) 2022 Apr; 13(4): 688. Published online 2022 Apr 14. doi: 10.3390/genes13040688
PMCID:
PMC9025881
4.
Timothy Tidwell, Malia Deshotel, Janice Palumbos, Chris Miller, Pinar Bayrak-Toydemir, John C. Carey
Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005728. doi: 10.1101/mcs.a005728
PMCID:
PMC7784487
5.
Shiqiu Xiong, Lanjun Shuai, Xiaoyan Li, Xiqiang Dang, Xiaochuan Wu, Qingnan He
BMC Nephrol. 2020; 21: 170. Published online 2020 May 11. doi: 10.1186/s12882-020-01809-6
PMCID:
PMC7216528
6.
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Orphanet J Rare Dis. 2020; 15: 44. Published online 2020 Feb 10. doi: 10.1186/s13023-020-1317-9
PMCID:
PMC7011274
7.
Emanuele Micaglio, Andreea Alina Andronache, Paola Carrera, Michelle M. Monasky, Emanuela T. Locati, Barbara Pirola, Silvia Presi, Mario Carminati, Maurizio Ferrari, Alessandro Giamberti, Carlo Pappone
Int J Mol Sci. 2019 Dec; 20(24): 6247. Published online 2019 Dec 11. doi: 10.3390/ijms20246247
PMCID:
PMC6940840
8.
Cinthya J. Zepeda-Mendoza, Margot A. Cousin, Shubham Basu, Garrett Jenkinson, Gavin Oliver, Siobhan T. Pittock, Linda B. Baughn, Eric W. Klee, Dusica Babovic-Vuksanovic
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004655. doi: 10.1101/mcs.a004655
PMCID:
PMC6913153
9.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul-Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup, Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin C. Herman, Joshua L. Deignan, Walla Al-Hertani, Stephanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge, Maria Hafström, Emily Fassi, Henry Houlden, Jolien S. Klein Wassink-Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien van Gils, Thomas Bourgeron, Richard Delorme, Gregory M. Cooper, Jose E. Martinez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen van Gassen, Sarju G. Mehta, Dagmar Huhle, Rami Abou Jamra, Sonja Martin, Han G. Brunner, Dick Lindhout, Margaret Au, John M. Graham, Jr., Christine Coubes, Gustavo Turecki, Simon Gravel, Naguib Mechawar, Elsa Rossignol, Jacques L. Michaud, Julie Lessard, Carl Ernst, Philippe M. Campeau
Am J Hum Genet. 2019 May 2; 104(5): 815–834. Published online 2019 Apr 25. doi: 10.1016/j.ajhg.2019.03.022
PMCID:
PMC6507050
10.
Anara Karaca, Monica Reyes, Lauren T. Shumate, Isilay Taskaldiran, Tulay Omma, Nese Ersoz Gulcelik, Murat Bastepe
Bone.
Published in final edited form as: Bone. 2019 Jun; 123: 153–158. Published online 2019 Mar 23. doi: 10.1016/j.bone.2019.03.028
PMCID:
PMC6506180
11.
Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi
Ital J Pediatr. 2018; 44: 138. Published online 2018 Nov 20. doi: 10.1186/s13052-018-0580-z
PMCID:
PMC6245908
12.
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Orphanet J Rare Dis. 2017; 12: 172. Published online 2017 Nov 2. doi: 10.1186/s13023-017-0721-2
PMCID:
PMC5669016
13.
Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi, Marwan Ali, Alessia Asaro, Emanuela Ponzi, Alice Moncada, Stefania Ricciardi, Marina Murdolo, Giorgia Mancano, Ilaria Contaldo, Vincenzo Leuzzi, Domenica Battaglia, Eugenio Mercuri, Anne M Slavotinek, Marcella Zollino
Eur J Hum Genet. 2015 Oct; 23(11): 1499–1504. Published online 2015 Feb 25. doi: 10.1038/ejhg.2015.19
PMCID:
PMC4613466
14.
Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, Michael F. Murray, Monica A. Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester Brown, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N. Lamb, Lisa G. Shaffer, Jay W. Ellison, J. Britt Ravnan, Paweł Stankiewicz, Jill A. Rosenfeld
Hum Mutat.
Published in final edited form as: Hum Mutat. 2013 Oct; 34(10): 1415–1423. Published online 2013 Aug 13. doi: 10.1002/humu.22384
PMCID:
PMC4599348
15.
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra
Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253
PMCID:
PMC4538199
16.
Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez, Jacques Puechberty, Anouck Schneider, Manon Girard, Patrick Edery, Patricia Bretonnes, Jérôme Cottalorda, Geneviève Lefort, Claire Jeandel, Pierre Sarda, David Genevieve
Eur J Hum Genet. 2014 Jan; 22(1): 136–139. Published online 2013 Apr 10. doi: 10.1038/ejhg.2013.56
PMCID:
PMC3865400
17.
Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, Sandra Chantot-Bastaraud, Corinne Metay, Joris Andrieux, Göran Annerén, Antoinet C J Gijsbers, Luc Druart, Capucine Hyon, Marie-France Portnoi, Eva-Lena Stattin, Catherine Vincent-Delorme, Sarina G Kant, Michelle Steinraths, Sandrine Marlin, Irina Giurgea, Ann-Charlotte Thuresson
Eur J Hum Genet. 2011 Sep; 19(9): 959–964. Published online 2011 Apr 27. doi: 10.1038/ejhg.2011.71
PMCID:
PMC3179368
18.
Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049
PMCID:
PMC3109510
19.
D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries
J Med Genet.
Published in final edited form as: J Med Genet. 2008 Nov; 45(11): 710–720. Published online 2008 Jul 15. doi: 10.1136/jmg.2008.058701
Correction in:
J Med Genet, volume 46 on page 576
PMCID:
PMC3071570
20.
Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans Hilger Ropers, Andreas Walter Kuss, Andreas Tzschach
Eur J Hum Genet. 2009 Jan; 17(1): 125–128. Published online 2008 Sep 10. doi: 10.1038/ejhg.2008.159
PMCID:
PMC2985958

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