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Academic Journal
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P.Y. Billie; Weksberg, Rosanna
In The American Journal of Human Genetics 6 October 2022 109(10):1867-1884
Academic Journal
Jiménez de la Peña, Mar; Fernández-Mayoralas, Daniel Martín; López-Martín, Sara; Albert, Jacobo; Calleja-Pérez, Beatriz; Fernández-Perrone, Ana Laura; Jiménez de Domingo, Ana; Tirado, Pilar; Álvarez, Sara; Fernández-Jaén, Alberto
In European Journal of Paediatric Neurology November 2021 35:8-15
Academic Journal
Jiménez de Domingo, Ana; Lopez-Martín, Sara; Albert, Jacobo; Jiménez de la Peña, Mar; Tirado, Pilar; Fernández-Mayoralas, Daniel Martín; Fernández-Perrone, Ana Laura; Calleja-Pérez, Beatriz; Martínez-García, Mónica; Álvarez, Sara; Fernández-Jaén, Alberto
In European Journal of Medical Genetics December 2020 63(12)
Academic Journal
Jiménez de la Peña, Mar; Rincón‐Pérez, Irene; López‐Martín, Sara; Albert, Jacobo; Martín Fernández‐Mayoralas, Daniel; Fernández‐Perrone, Ana Laura; Jiménez de Domingo, Ana; Tirado, Pilar; Calleja‐Pérez, Beatriz; Porta, Javier; Álvarez, Sara; Fernández‐Jaén, Alberto
American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p211-217, 7p
Academic Journal
Puertas, Alberto; Tirado, Pilar; Pérez, Isabel; López, María S.; Montoya, Francisco; Cañizares, José M.; Miranda, José A.
In European Journal of Obstetrics and Gynecology March 2007 131(1):40-44
Academic Journal
Jimenez de la Pena, Mar; Rincon-Perez, Irene; Lopez-Martin, Sara; Albert, Jacobo; Martin Fernandez-Mayoralas, Daniel; Fernandez-Perrone, Ana Laura; Jimenez de Domingo, Ana; Tirado, Pilar; Calleja-Perez, Beatriz; Porta, Javier; Alvarez, Sara; Fernandez-Jaen, Alberto
Periodical
Tran, Viviane; Goyette, Marie-Anne; Martínez-García, Mónica; Jiménez de Domingo, Ana; Fernández-Mayoralas, Daniel Martín; Fernández-Perrone, Ana Laura; Tirado, Pilar; Calleja-Pérez, Beatriz; Álvarez, Sara; Côté, Jean-François; Fernández-Jaén, Alberto
Small GTPases; December 2022, Vol. 13 Issue: 1 p48-55, 8p
Academic Journal
Journal of Pediatric Neurology; Dec2022, Vol. 20 Issue 6, p437-439, 3p
Academic Journal
Tran, Viviane; Goyette, Marie-Anne; Martínez-García, Mónica; Jiménez de Domingo, Ana; Fernández-Mayoralas, Daniel Martín; Fernández-Perrone, Ana Laura; Tirado, Pilar; Calleja-Pérez, Beatriz; Álvarez, Sara; Côté, Jean-François; Fernández-Jaén, Alberto
Academic Journal
Jiménez de la Peña, Mar; Jiménez de Domingo, Ana; Tirado, Pilar; Calleja-Pérez, Beatriz; Alcaraz, Luis A.; Álvarez, Sara; Williams, Jonathan; Hagman, James R.; Németh, Andrea H.; Fernández-Jaén, Alberto
Molecular Syndromology; 2021, Vol. 12 Issue 3, p186-193, 8p
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