نتائج بحث المؤلف :: APM

1

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families حسب Maryam Al Shehhi, Eva Forman, Jacqueline Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R. Betts, Linda Mc Ardle, Kathleen M. Gorman, Mary D. King, Andrew Green, Louise Gallagher, Sally Ann Lynch

منشور في 2018

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Artigo

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2

Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells حسب Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew L. O’Sullivan, Amirhossein Jalali, Eva Forman, Sally Ann Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O’Brien, Leo R. Quinlan, Louise Gallagher, Sanbing Shen

منشور في 2019

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Artigo

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3

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 حسب A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud, Michael Gonzalez, Ahmad Alodaib, Alexander J. Abrams, Kumiko Sugano, Atsushi Yonezawa, Adnan Y. Manzur, Joshua Burns, Imelda Hughes, B.G. McCullagh, Heinz Jungbluth, Ming Lim, Jean‐Pierre Lin, André Mégarbané, J. Andoni Urtizberea, Ayaz Shah, Jayne Antony, Richard Webster, Alexander Broomfield, Joanne Ng, Ann Agnes Mathew, James J. O’Byrne, Eva Forman, Mariacristina Scoto, Manish Prasad, Katherine O’Brien, S. E. Olpin, Marcus Oppenheim, Iain P. Hargreaves, John M. Land, Min X. Wang, Kevin Carpenter, Rita Horváth, Volker Straub, Monkol Lek, Wendy Gold, Michael O. Farrell, Sebastian Brandner, Rahul Phadke, Kazuo Matsubara, Michael L. McGarvey, Steven S. Scherer, Peter Baxter, Mary D. King, Peter T. Clayton, Shamima Rahman, Mary M. Reilly, Robert Ouvrier, John Christodoulou, Stephan Züchner, Francesco Muntoni, Henry Houlden

منشور في 2013

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Artigo

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4

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation حسب Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

منشور في 2020

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Artigo

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