Hereditary Hyperekplexia in Saudi Arabia

Autor: Aldhilan, Amal, Alhakeem, Afnan, Al Hajjaj, Sumayah, Abukhalid, Musaad, Aldhalaan, Hisham, Salah, Ehab, Saeed, Muhammed, Tabassum, Sadia, El Khashab, Heba Y., Aljabri, Mohammed, Ali, El-Sayed, Alwadei, Ali, Hundallah, Khalid, Alghamdi, Abdulaziz, Hakami, Wejdan, AlShafi, Shatha, Alkuraya, Fowzan S., Alanazy, Naif, Seidahmed, Mohammed Zain, Alfadhel, Majid, Tabarki, Brahim

Publikováno v: In Pediatric Neurology September 2022 134:78-82

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Autor: Feichtinger, René G., Mucha, Bettina E., Hengel, Holger, Orfi, Zakaria, Makowski, Christine, Dort, Junio, D’Anjou, Guy, Nguyen, Thi Tuyet Mai, Buchert, Rebecca, Juenger, Hendrik, Freisinger, Peter, Baumeister, Sarah, Schoser, Benedikt, Ahting, Uwe, Keimer, Reinhard, Nguyen, Cam-Tu Emilie, Fabre, Paul, Gauthier, Julie, Miguet, Marguerite, Lopes, Fátima, AlHakeem, Afnan, AlHashem, Amal, Tabarki, Brahim, Kandaswamy, Krishna Kumar, Bauer, Peter, Steinbacher, Peter, Prokisch, Holger, Sturm, Marc, Strom, Tim M., Ellezam, Benjamin, Mayr, Johannes A., Schöls, Ludger, Michaud, Jacques L., Campeau, Philippe M., Haack, Tobias B., Dumont, Nicolas A.

Publikováno v: In Genetics in Medicine November 2019 21(11):2521-2531

List of Contributors

Autor: Abbott, M.A., Akamatsu, Wado, Akman, Hasan Orhan, AlHakeem, Afnan, Ali, Sheliza, AlMutiri, Rowim, Aoyama, Koji, Artuch, Rafael, Aumont-Rodrigue, Gabriel, Baril, Andrée-Ann, Barshop, Bruce A., Beck, Michael, Bennett, C. Frank, Berry, Gerard T., Boitnott, Andrea, Calame, Daniel G., Canine, Brenda, Casy, Widler, Chinnery, Patrick F., Chuang, David T., De Jager, Philip L., Demirbas, Didem, Desnick, Robert J., DiMauro, Salvatore, d’Azzo, A., Eichler, Florian S., Elmquist, Joel K., Emmanuele, Valentina, Engelen, Marc, Esteves, S., Evans, Patricia, Fogel, Brent L., Fremuth, L.E., Gallagher, J., García-Cazorla, Àngels, Garza, Irvin T., Glueck, Amanda C., Golla, Sailaja, Goodarzi, Mohammad, Goodspeed, Kimberly, Gray, Steven J., Gray-Edwards, H., Gropman, Andrea L., Guerrini, Renzo, Guldner, Ian H., Gunn, Teresa M., Haffner, Darrah, Hagerman, R.J., Harel, Tamar, Harp, Jordan P., Head, Elizabeth, Horvath, Rita, Ishii, Makoto, Ishiura, Hiroyuki, Jakkamsetti, Vikram, Jalazo, Elizabeth R., Khorkova, Olga, Kinoshita, Chisato, Kukull, Walter A., Lane, Roger, Latham, Stephen R., Leigh, M.J., Ling, Qinglan, Lupski, James R., Luzi, Paola, Ma, Qian, Maegawa, Gustavo H.B., Marin-Valencia, Isaac, Mastrianni, James A., Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben, Mathews, Jennifer M., Megagiannis, Platon, Mehta, Nikita, Meltzer, Meira R., Mengel, Eugen, Mew, Nicholas Ah, Millar Vernetti, Patricio, Mitsui, Jun, Monteggia, Lisa M., Morris, Mary Ann, Moser, Hugo W., Murray, Melissa E., Nakaki, Toshio, Nishino, Ichizo, Noble, Denis, Nussbaum, Robert L., Nyhan, William L., Okano, Hideyuki, Parrini, Elena, Pascual, Juan M., Pastores, Gregory M., Patterson, Marc C., Piazza, Michelle K., Picard, Cynthia, Poirier, Judes, Pomerantz, Daniel J., Posey, Jennifer E., Raymond, Gerald V., Renthal, William, Rossignol, Francis, Rouleau, Guy A., Saez-Calveras, Nil, Sandhoff, Konrad, Schiffmann, Raphael, Schindler, Detlev, Schmitt, Frederick A., Schon, Eric A., Schuchman, Edward H., Seashore, Margretta Reed, Sena-Esteves, M., Shaffo, Frances C., Shevell, Michael, Shishodia, Gauri, Sinnett, Sarah E., Srour, Myriam, Stevens, Hannah A., Sugie, Kazuma, Taylor, Alexa, Tedeschi Dauar, Marina, Thinwa, Josephine, Tifft, C., Tsuji, Shoji, Uhlmann, Wendy R., Van Pelt, Kathryn L., Vemuri, Prashanthi, Vernino, Steven, Wahlestedt, Claes, Wang, Bruce, Weesner, J.A., Wenger, David A., Williams, Kevin W., Wolf, Nicole I., Wolfe, John H., Wynn, R. Max, Wyss-Coray, Tony, Yingling, N., Zhou, Yang

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:xix-xxiii

Chapter 19 - Global developmental delay and intellectual disability

Autor: Srour, Myriam, AlHakeem, Afnan, Shevell, Michael

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Edition: Sixth Edition. 2020:269-281

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