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Items: 7

1.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard
J Clin Endocrinol Metab. 2021 Feb; 106(2): e660–e674. Published online 2020 Oct 1. doi: 10.1210/clinem/dgaa700
PMCID:
PMC7823228
2.
Veronica M. Urbik, Marilyn Schmiedel, Haille Soderholm, Joshua L. Bonkowsky
Child Neurol Open. 2020 Jan-Dec; 7: 2329048X20939003. Published online 2020 Jul 8. doi: 10.1177/2329048X20939003
PMCID:
PMC7359642
3.
Laurence Gauquelin, Ferdy K. Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva L. Fung, Stefano D'Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy M. Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, DDD Study,, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard
Neurol Genet. 2019 Dec; 5(6): e369. Published online 2019 Oct 30. doi: 10.1212/NXG.0000000000000369
PMCID:
PMC6927361
4.
Izabela Rudzińska, Małgorzata Cieśla, Tomasz W. Turowski, Alicja Armatowska, Ewa Leśniewska, Magdalena Boguta
Int J Mol Sci. 2021 Jul; 22(14): 7298. Published online 2021 Jul 7. doi: 10.3390/ijms22147298
PMCID:
PMC8306304
5.
Ana Ching-López, Luis Javier Martinez-Gonzalez, Luisa Arrabal, Jorge Sáiz, Ángela Gavilán, Coral Barbas, Jose Antonio Lorente, Susana Roldán, Maria José Sánchez, Purificacion Gutierrez-Ríos
Int J Mol Sci. 2021 Mar; 22(6): 2990. Published online 2021 Mar 15. doi: 10.3390/ijms22062990
PMCID:
PMC8002209
6.
Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, Marianna Bugiani, Xiaoqin Fu, Nicole I Wolf, Bruce Nmezi, Raphael Schiffmann, Mona Bugaighis, Tyler Pierson, Guy Helman, Cas Simons, Marjo S van der Knaap, Judy Liu, Quasar Padiath, Adeline Vanderver
Hum Mol Genet. 2017 Nov 15; 26(22): 4506–4518. Published online 2017 Aug 29. doi: 10.1093/hmg/ddx338
PMCID:
PMC7462055
7.
Gregory B. Potter, Marta Santos, Muriel T. Davisson, David H. Rowitch, Dan L. Marks, Ernesto R. Bongarzone, Magdalena A. Petryniak
Hum Mol Genet. 2013 Sep 1; 22(17): 3397–3414. Published online 2013 Apr 24. doi: 10.1093/hmg/ddt190
PMCID:
PMC3736866

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