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Academic Journal
Wiessner, M; Maroofian, R; Ni, MY; Pedroni, A; Muller, JS; Stucka, R; Beetz, C; Efthymiou, S; Santorelli, FM; Alfares, AA; Zhu, CL; Meszarosova, AU; Alehabib, E; Bakhtiari, S; Janecke, AR; Otero, MG; Chen, JYH; Peterson, JT; Strom, TM; De Jonghe, P; Deconinck, T; De Ridder, W; De Winter, J; Pasquariello, R; Ricca, I; Alfadhel, M; van de Warrenburg, BP; Portier, R; Bergmann, C; Firouzabadi, SG; Jin, SC; Bilguvar, K; Hamed, S; Abdelhameed, M; Haridy, NA; Maqbool, S; Rahman, F; Anwar, N; Carmichael, J; Pagnamenta, A; Wood, NW; Mau-Them, FT; Haack, T; Di Rocco, M; Ceccherini, I; Iacomino, M; Zara, F; Salpietro, V; Scala, M; Rusmini, M; Xu, YR; Wang, YH; Suzuki, Y; Koh, K; Nan, HT; Ishiura, H; Tsuji, S; Lambert, L; Schmitt, E; Lacaze, E; Kupper, H; Dredge, D; Skraban, C; Goldstein, A; Willis, MJH; Grand, K; Graham, JM; Lewis, RA; Millan, F; Duman, O; Dundar, N; Uyanik, G; Schols, L; Nurnberg, P; Nurnberg, G; Bordes, AC; Seeman, P; Kuchar, M; Darvish, H; Rebelo, A; Boucanova, F; Medard, JJ; Chrast, R; Auer-Grumbach, M; Alkuraya, FS; Shamseldin, H; Al Tala, S; Varaghchi, JR; Najafi, M; Deschner, S; Glaser, D; Huttel, W; Kruer, MC; Kamsteeg, EJ; Takiyama, Y; Zuchner, S; Baets, J; Synofzik, M; Schule, R; Horvath, R; Houlden, H; Bartesaghi, L; Lee, HJ; Ampatzis, K; Pierson, TM; Senderek, J
Brain : a journal of neurology. 144(5):1422-1434
Periodical
Siddiqi, Z; Allen, JA; Basta, I; Eggers, C; Guptill, J; Gwathmey, K; Hewamadduma, C; Hofman, E; Hussain, Y; Kuwabara, S; Leypoldt, F; Lin, J; Lipowska, M; Lowe, M; Lauria Pinter, G; Querol, L; Suresh, N; Chang, T; Tse, A; Ulrichts, P; van Doorn, PA; Van Hoorick, B; Yamasaki, R; Lewis, RA
The Canadian Journal of Neurological Sciences; June 2024, Vol. 51 Issue: Supplement 1 pS8-S9, 2p
Academic Journal
Lindstrand, A; Frangakis, S; Carvalho, CMB; Richardson, EB; McFadden, KA; Willer, JR; Pehlivan, D; Liu, PF; Pediaditakis, IL; Sabo, A; Lewis, RA; Banin, E; Lupski, JR; Davis, EE; Katsanis, N
American journal of human genetics. 99(2):318-336
Academic Journal
In Value in Health October-November 2017 20(9):A748-A748
Electronic Resource
Merkies, ISJ; van Schaik, IN; Leger, J-M; Bril, V; van Geloven, N; Hartung, H-P; Lewis, RA; Sobue, G; Lawo, J-P; Durn, BL; Cornblath, DR; De Bleecker, JL; Sommer, C; Robberecht, W; Saarela, M; Kamienowski, J; Stelmasiak, Z; Tackenberg, B; Mielke, O; Sabet, A; George, K; Roberts, L; Carne, R; Blum, S; Henderson, R; Van Damme, P; Demeestere, J; Larue, S; D'Amour, C; Kunc, P; Valis, M; Sussova, J; Kalous, T; Talab, R; Bednar, M; Toomsoo, T; Rubanovits, I; Gross-Paju, K; Sorro, U; Auranen, M; Pouget, J; Attarian, S; Le Masson, G; Wielanek-Bachelet, A; Desnuelle, C; Delmont, E; Clavelou, P; Aufauvre, D; Schmidt, J; Zschuentzsch, J; Kramer, D; Hoffmann, O; Goerlitz, C; Haas, J; Chatzopoulos, M; Yoon, R; Gold, R; Berlit, P; Jaspert-Grehl, A; Liebetanz, D; Kutschenko, A; Stangel, M; Trebst, C; Baum, P; Bergh, F; Klehmet, J; Meisel, A; Klostermann, F; Oechtering, J; Lehmann, H; Schroeter, M; Hagenacker, T; Mueller, D; Sperfeld, A; Bethke, F; Drory, V; Algom, A; Yarnitsky, D; Murinson, B; Di Muzio, A; Ciccocioppo, F; Sorbi, S; Mata, S; Schenone, A; Grandis, M; Lauria, G; Cazzato, D; Antonini, G; Morino, S; Cocito, D; Zibetti, M; Yokota, T; Ohkubo, T; Kanda, T; Kawai, M; Kaida, K; Onoue, H; Kuwabara, S; Mori, M; Iijima, M; Ohyama, K; Baba, M; Tomiyama, M; Nishiyama, K; Akutsu, T; Yokoyama, K; Kanai, K; Eftimov, F; Notermans, NC; Visser, N; Faber, C; Hoeijmakers, J; Rejdak, K; Chyrchel-Paszkiewicz, U; Casanovas Pons, C; Antonia, M; Gamez, J; Salvado, M; Marquez Infante, C; Benitez, S; Lunn, M; Morrow, J; Gosal, D; Lavin, T; Melamed, I; Testori, A; Ajroud-Driss, S; Menichella, D; Simpson; Lai, EC-H; Dimachkie, M; Barohn, RJ; Beydoun, S; Johl, H; Lange, D; Shtilbans, A; Muley, S; Ladha, S; Freimer, M; Kissel, J; Latov, N; Chin, R; Ubogu, E; Mumfrey, S; Rao, T; MacDonald, P; Sharma, K; Gonzalez, G; Allen, J; Walk, D; Hobson-Webb, L; Gable, K; Franques, J; Morales, RJ; Nguento, A; Schrey, C; Zwolinska, G
Electronic Resource
Kelly, M; Park, M; Mihalek, I; Rochtus, A; Gramm, M; Perez-Palma, E; Axeen, ET; Hung, CY; Olson, H; Swanson, L; Anselm, I; Briere, LC; High, FA; Sweetser, DA; Kayani, S; Snyder, M; Calvert, S; Scheffer, IE; Yang, E; Waugh, JL; Lal, D; Bodamer, O; Poduri, A; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Baker, E; Balasubramanyam, A; Barseghyan, H; Batzli, GF; Beggs, AH; Behnam, B; Bellen, HJ; Bernstein, JA; Bican, A; Bick, DP; Birch, CL; Bonner, D; Boone, BE; Bostwick, BL; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Chen, S; Clark, GD; Coakley, TR; Cogan, JD; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P; Davids, M; Davidson, JM; Dayal, JG; Dell'Angelica, EC; Dhar, SU; Dipple, KM; Donnell-Fink, LA; Dorrani, N; Dorset, DC; Douine, ED; Draper, DD; Dries, AM; Eckstein, DJ; Emrick, LT; Eng, CM; Enns, G-GM; Eskin, A; Esteves, C; Estwick, T; Fairbrother, L; Fernandez, L; Ferreira, C; Fieg, EL; Fisher, PG; Fogel, BL; Friedman, ND; Gahl, WA; Glanton, E; Godfrey, RA; Goldman, AM; Goldstein, DB; Gould, SE; Gourdine, J-PF; Groden, CA; Gropman, AL; Haendel, M; Hamid, R; Hanchard, NA; High, F; Holm, IA; Horn, J; Howerton, EM; Huang, Y; Jamal, F; Jiang, Y-H; Johnston, JM; Jones, AL; Karaviti, L; Koeller, DM; Kohane, IS; Kohler, JN; Konick, S; Koziura, M; Krasnewich, DM; Krier, JB; Kyle, JE; Lalani, SR; Lau, CC; Lazar, J; LeBlanc, K; Lee, BH; Lee, H; Levy, SE; Lewis, RA; Lincoln, SA; Loo, SK; Loscalzo, J; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Majch-erska, MM; Malicdan, MC; Mamounas, LA; Manolio, TA; Markello, TC; Marom, R; Martin, MG; Martinez-Agosto, JA; Mar-waha, S; May, T; McConkie-Rosell, A; McCormack, CE; McCray, AF; Merker, JD; Metz, TO; Might, M; Moretti, PM; Morimoto, M; Mulvihill, JJ; Murdock, DR; Murphy, JL; Muzny, DM; Nehrebecky, ME; Nelson, SF; Newberry, JS; Newman, JH; Nicholas, SK; Novacic, D; Orange, JS; Orengo, JP; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Pena, LDM; Phillips, JA; Posey, JE; Postlethwait, JH; Potocki, L; Pusey, BN; Reuter, CM; Rives, L; Robertson, AK; Rodan, LH; Rosenfeld, JA; Sampson, JB; Samson, SL; Schoch, K; Scott, DA; Shakachite, L; Sharma, P; Shashi, V; Signer, R; Silverman, EK; Sinsheimer, JS; Smith, KS; Spillmann, RC; Stoler, JM; Stong, N; Sullivan, JA; Tan, QK-G; Tifft, CJ; Toro, C; Tran, AA; Urv, TK; Vilain, E; Vogel, TP; Waggott, DM; Wahl, CE; Walker, M; Walley, NM; Walsh, CA; Wan, J; Wangler, MF; Ward, PA; Waters, KM; Webb-Robertson, B-JM; Westerfield, M; Wheeler, MT; Wise, AL; Wolfe, LA; Worthey, EA; Yamamoto, S; Yang, Y; Yoon, AJ; Yu, G; Zastrow, DB; Zhao, C; Zheng, A
Electronic Resource
Mielke, O; Bril, V; Cornblath, DR; Lawo, J-P; van Geloven, N; Hartung, H-P; Lewis, RA; Merkies, ISJ; Sobue, G; Durn, B; Shebl, A; van Schaik, IN; Sabet, A; George, K; Roberts, L; Carne, R; Blum, S; Henderson, R; Van Damme, P; Demeestere, J; Larue, S; D'Amour, C; Kunc, P; Valis, M; Sussova, J; Kalous, T; Talab, R; Bednar, M; Toomsoo, T; Rubanovits, I; Gross-Paju, K; Sorro, U; Saarela, M; Auranen, M; Pouget, J; Attarian, S; Le Masson, G; Wielanek-Bachelet, A; Desnuelle, C; Delmont, E; Clavelou, P; Aufauvre, D; Schmidt, J; Zschuentzsch, J; Sommer, C; Kramer, D; Hoffmann, O; Goerlitz, C; Haas, J; Chatzopoulos, M; Yoon, R; Gold, R; Berlit, P; Jaspert-Grehl, A; Liebetanz, D; Kutschenko, A; Stangel, M; Trebst, C; Baum, P; Bergh, F; Klehmet, J; Meisel, A; Klostermann, F; Oechtering, J; Lehmann, H; Schroeter, M; Hagenacker, T; Mueller, D; Sperfeld, A; Bethke, F; Drory, V; Algom, A; Yarnitsky, D; Murinson, B; Di Muzio, A; Ciccocioppo, F; Sorbi, S; Mata, S; Schenone, A; Grandis, M; Lauria, G; Cazzato, D; Antonini, G; Morino, S; Cocito, D; Zibetti, M; Yokota, T; Ohkubo, T; Kanda, T; Kawai, M; Kaida, K; Onoue, H; Kuwabara, S; Mori, M; Iijima, M; Ohyama, K; Baba, M; Tomiyama, M; Nishiyama, K; Akutsu, T; Yokoyama, K; Kanai, K; Eftimov, F; Notermans, NC; Visser, N; Faber, C; Hoeijmakers, J; Rejdak, K; Chyrchel-Paszkiewicz, U; Casanovas Pons, C; Antonia, M; Gamez, J; Salvado, M; Marquez Infante, C; Benitez, S; Lunn, M; Morrow, J; Gosal, D; Lavin, T; Melamed, I; Testori, A; Ajroud-Driss, S; Menichella, D; Simpson, E; Lai, EC-H; Dimachkie, M; Barohn, RJ; Beydoun, S; Johl, H; Lange, D; Shtilbans, A; Muley, S; Ladha, S; Freimer, M; Kissel, J; Latov, N; Chin, R; Ubogu, E; Mumfrey, S; Rao, T; MacDonald, P; Sharma, K; Gonzalez, G; Allen, J; Walk, D; Hobson-Webb, L; Gable, K
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
Academic Journal
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