Browse by Journal Title

Group by: Creators | Item Type | Uncontrolled Keywords | No Grouping

autism Avicenna CYFIP2 epilepsy genetic counseling history intellectual disability MCPH medical genetics mitochondria primary microcephaly RFX secondary microcephaly WASF WAVE-regulatory complex (WRC)

Number of items: 16.

autism

Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Van Gassen, Koen L I, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, De Vries, Bert B A, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus Jr, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Abou Jamra, Rami, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H and Yu, Timothy W (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine, 23 (6). pp. 1028-1040. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-021-01114-z)

Avicenna

Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Asadollahi, Hamid (2013) Avicenna’s view on medical genetics. Genetics in Medicine, 15 (5). pp. 410-411. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/gim.2013.27)

CYFIP2

Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x)

epilepsy

genetic counseling

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

Export as	RSS