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Items: 1 to 20 of 65

1.
Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo
eLife. 2023; 12: RP88459. Published online 2023 Oct 13. doi: 10.7554/eLife.88459
PMCID:
PMC10575631
2.
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri
BMC Genomics. 2023; 24: 460. Published online 2023 Aug 16. doi: 10.1186/s12864-023-09561-5
PMCID:
PMC10433598
3.
Elsa Ghirardini, Giulia Sagona, Angel Marquez-Galera, Francesco Calugi, Carmen M. Navarron, Francesco Cacciante, Siwei Chen, Federica Di Vetta, Lorenzo Dadà, Raffaele Mazziotti, Leonardo Lupori, Elena Putignano, Pierre Baldi, Jose P. Lopez-Atalaya, Tommaso Pizzorusso, Laura Baroncelli
Acta Neuropathol Commun. 2023; 11: 34. Published online 2023 Mar 7. doi: 10.1186/s40478-023-01533-w
PMCID:
PMC9990224
4.
Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog, Dena R. Matalon
J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096231154438. Published online 2023 Feb 8. doi: 10.1177/23247096231154438
PMCID:
PMC9909053
5.
Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li
Mol Genet Genomic Med. 2021 Apr; 9(4): e1640. Published online 2021 Mar 3. doi: 10.1002/mgg3.1640
PMCID:
PMC8123749
6.
Lu Yuan, Xian Jian Wu, Wen Chuan Li, Chenyi Zhuo, ZuoMing Xu, Chuan Tan, RiHai Ma, JianChu Wang, Jian Pu
Technol Cancer Res Treat. 2020; 19: 1533033820983029. Published online 2020 Dec 28. doi: 10.1177/1533033820983029
PMCID:
PMC7780307
7.
Neha Jangid, Priyanka Surana, Gajja Salmonos, Vivek Jain
BMJ Case Rep. 2020; 13(12): e237542. Published online 2020 Dec 17. doi: 10.1136/bcr-2020-237542
PMCID:
PMC7747534
8.
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews
Orphanet J Rare Dis. 2020; 15: 339. Published online 2020 Dec 2. doi: 10.1186/s13023-020-01617-z
PMCID:
PMC7709238
9.
Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Mol Genet Genomic Med. 2020 Sep; 8(9): e1263. Published online 2020 Apr 26. doi: 10.1002/mgg3.1263
PMCID:
PMC7507388
10.
K. C. Udobi, A. N. Kokenge, E. R. Hautman, G. Ullio, J. Coene, M. T. Williams, C. V. Vorhees, A. Mabondzo, M. R. Skelton
Genes Brain Behav.
Published in final edited form as: Genes Brain Behav. 2018 Jul; 17(6): e12461. Published online 2018 Feb 20. doi: 10.1111/gbb.12461
PMCID:
PMC6696915
11.
Gabriela Ullio-Gamboa, Kenea C Udobi, Sophie Dezard, Marla K Perna, Keila N Miles, Narciso Costa, Frédéric Taran, Alain Pruvost, Jean-Pierre Benoit, Matthew R Skelton, Pascale de Lonlay, Aloïse Mabondzo
Nanomedicine (Lond) 2019 Jun; 14(12): 1579–1593. Published online 2019 Apr 30. doi: 10.2217/nnm-2019-0059
PMCID:
PMC6613044
12.
Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie
BMC Med Genet. 2018; 19: 193. Published online 2018 Nov 6. doi: 10.1186/s12881-018-0707-5
PMCID:
PMC6219255
13.
Jessie M. Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Int J Mol Sci. 2017 Aug; 18(8): 1665. Published online 2017 Jul 31. doi: 10.3390/ijms18081665
PMCID:
PMC5578055
14.
Marla K. Perna, Amanda N. Kokenge, Keila N. Miles, Kenea C. Udobi, Joseph F. Clark, Gail J. Pyne-Geithman, Zaza Khuchua, Matthew R. Skelton
Amino Acids.
Published in final edited form as: Amino Acids. 2016 Aug; 48(8): 2057–2065. Published online 2016 Jul 11. doi: 10.1007/s00726-016-2291-3
PMCID:
PMC4975633
15.
Audrey Thurm, Daniel Himelstein, Precilla D'Souza, Owen Rennert, Susanqi Jiang, Damilola Olatunji, Nicola Longo, Marzia Pasquali, Susan Swedo, Gajja S Salomons, Nuria Carrillo
J Dev Behav Pediatr.
Published in final edited form as: J Dev Behav Pediatr. 2016 May; 37(4): 322–326. doi: 10.1097/DBP.0000000000000299
PMCID:
PMC4907372
16.
David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva, Alexandra Afenjar, Delphine Héron, François Rivier, Brigitte Chabrol, Fabienne Prieur, François Cartault, Gaëlle Pitelet, Alice Goldenberg, Soumeya Bekri, Marion Gerard, Richard Delorme, Marc Tardieu, Nicole Porchet, Christine Vianey-Saban, Joseph Vamecq
Orphanet J Rare Dis. 2012; 7: 96. Published online 2012 Dec 13. doi: 10.1186/1750-1172-7-96
PMCID:
PMC3552865
17.
Maria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, Antonio Vivi, Marco Calderisi, Michele Falco, Marco Fichera, Lucia Monti, Sabrina Buoni, Francesca Mari, Udo Engelke, Ron A Wevers, Joussef Hayek, Alessandra Renieri
Am J Med Genet A. 2011 Oct; 155(10): 2446–2452. Published online 2011 Sep 9. doi: 10.1002/ajmg.a.34208
PMCID:
PMC3306553
18.
Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M. S. Mancini
J Inherit Metab Dis. 2012; 35(1): 141–149. Published online 2011 May 10. doi: 10.1007/s10545-011-9345-1
PMCID:
PMC3249187
19.
Ofir T Betsalel, Efraim H Rosenberg, Ligia S Almeida, Tjitske Kleefstra, Charles E Schwartz, Vassili Valayannopoulos, Omar Abdul-Rahman, Nicola Poplawski, Laura Vilarinho, Philipp Wolf, Johan T den Dunnen, Cornelis Jakobs, Gajja S Salomons
Eur J Hum Genet. 2011 Jan; 19(1): 56–63. Published online 2010 Aug 18. doi: 10.1038/ejhg.2010.134
PMCID:
PMC3039501
20.
I. M. Anselm, F. S. Alkuraya, G. S. Salomons, C. Jakobs, A. B. Fulton, M. Mazumdar, M. Rivkin, R. Frye, T. Young Poussaint, D. Marsden
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2006 Feb; 29(1): 214–219. doi: 10.1007/s10545-006-0123-4
Correction in:
volume 29 on page 764
PMCID:
PMC2393549

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