학술논문
'학술논문'
에서 검색결과 717건 | 목록
1~10
Academic Journal
Pathak, GA; Polimanti, R; Karjalainen, J; Daly, M; Ganna, A; Daly, MJ; Stevens, C; Kanai, M; Liao, RG; Trankiem, A; Balaconis, MK; Nguyen, H; Solomonson, M; Veerapen, K; Ripatti, S; Nkambul, L; Bryant, S; Sankaran, VG; Neale, BM; Karczewski, KJ; Martin, AR; Atkinson, EG; Tsuo, K; Baya, N; Turley, P; Gupta, R; Walters, RK; Palmer, DS; Sarma, G; Cheng, N; Lu, W; Churchhouse, C; Goldstein, J; King, D; Zhou, W; Seed, C; Finucane, H; Satterstrom, FK; Andrews, SJ; Sloofman, LG; Sealfon, SC; Hoggart, C; Underwood, SJ; Cordioli, M; Pirinen, M; Donner, K; Kivinen, K; Palotie, A; Kaunisto, M; Harerimana, N; Chwialkowska, K; Wolford, B; Roberts, G; Park, D; Ball, CA; Coignet, M; McCurdy, S; Knight, S; Partha, R; Rhead, B; Zhang, M; Berkowitz, N; Gaddis, M; Noto, K; Ruiz, L; Pavlovic, M; Hong, EL; Rand, K; Girshick, A; Guturu, H; Baltzell, AH; Niemi, MEK; Pigazzini, S; Rahmouni, S; Georges, M; Belhaj, Y; Guntz, J; Claassen, S; Beguin, Y; Gofflot, S; Nkambule, L; Cusick, C; Moutschen, M; Misset, B; Darcis, G; Guiot, J; Azarzar, S; Malaise, O; Huynen, P; Meuris, C; Thys, M; Jacques, J; Leonard, P; Frippiat, F; Giot, JB; Sauvage, AS; Von Frenckell, C; Lambermont, B; Nakanishi, T; Morrison, DR; Richards, JB; Butler-Laporte, G; Forgetta, V; Ghosh, B; Laurent, L; Henry, D; Abdullah, T; Adeleye, O; Mamlouk, N; Kimchi, N; Afrasiabi, Z; Rezk, N; Vulesevic, B; Bouab, M; Guzman, C; Petitjean, L; Tselios, C; Xue, XQ; Afilalo, J; Adra, D; Mooser, V; Li, R; Belisle, A; Lepage, P; Ragoussis, J; Auld, D; Lathrop, GM; Afilalo, M; Oliveira, M; Brenner, B; Brassard, N; Durand, M; Chasse, M; Kaufmann, DE; Schurr, E; Hayward, C; Richmond, A; Baillie, JK; Glessner, JT; Hakonarson, H; Chang, X; Shaw, DM; Below, J; Polikowski, H; Lauren, PE; Chen, HH; Zhu, WY; Davis, L; Kerchberger, VE; Campbell, A; Porteous, DJ; Fawns-Ritchie, C; Morris, M; McCormick, JB; North, K; Glessner, JR; Gignoux, CR; Wicks, SJ; Crooks, K; Barnes, KC; Daya, M; Shortt, J; Rafaels, N; Chavan, S; Timmers, PRHJ; Wilson, JF; Tenesa, A; Kerr, SM; D'Mellow, K; Shahin, D; El-Sherbiny, YM; El-Jawhari, JJ; von Hohenstaufen, KA; Sobh, A; Eltoukhy, MM; Mohamed, AAS; Elhadidy, TA; Abd Elghafar, MS; Elnagdy, MH; Samir, A; Hegazy, MAF; Abdel-Aziz, M; Khafaga, WT; El-Lawaty, WM; Torky, MS; Moahmed, HS; El-shanshory, MR; Yassen, AM; Okasha, K; Eid, MA; Medina-Gomez, C; Uitterlinden, AG; Ikram, MA; Magi, R; Milani, L; Metspalu, A; Laisk, T; Lall, K; Lepamets, M; Esko, T; Reimann, E; Alavere, H; Metsalu, K; Puusepp, M; Naaber, P; Laane, E; Pesukova, J; Peterson, P; Kisand, K; Tabri, J; Allos, R; Hensen, K; Starkopf, J; Ringmets, I; Tamm, A; Kallaste, A; Batini, C; Tobin, MD; Venn, LD; Lee, PH; Shrine, N; Williams, AT; Guyatt, AL; John, C; Packer, RJ; Ali, A; Wang, X; Wain, L; Bee, CE; Adams, EL; Free, RC; Hollox, EJ; Ruotsalainen, S; Kristiansson, K; Koskelainen, S; Perola, M; Rivolta, C; Quinodoz, M; Kamdar, D; Bochud, PY; Boillat, N; Bibert, S; Nussle, SG; Albrich, W; Suh, N; Neofytos, D; Erard, V; Voide, C; Friolet, R; Vollenweider, P; Pagani, JL; Oddo, M; zu Bentrup, FM; Conen, A; Clerc, O; Marchetti, O; Guillet, A; Guyat-Jacques, C; Foucras, S; Rime, M; Chassot, J; Jaquet, M; Viollet, RM; Lannepoudenx, Y; Portopena, L; Desgranges, F; Filippidis, P; Guery, B; Haefliger, D; Kampouri, EE; Manuel, O; Munting, A; Papadimitriou-Olivgeris, M; Regina, J; Rochat-Stettler, L; Suttels; Tadini, E; Tschopp, J; Van Singer, M; Viala, B; Boillat-Blanco, N; Brahier, T; Hugli, O; Meuwly, JY; Pantet, O; Bochud, M; D'Acremont; Younes, SE; Albrich, WC; Cerny, A; O'Mahony, L; von Mering, C; Frischknecht, M; Kleger, GR; Filipovic, M; Kahlert, CR; Wozniak, H; Negro, TR; Pugin, J; Bouras, K; Knapp, C; Egger, T; Perret, A; Montillier, P; di Bartolomeo, C; Barda, B; de Cid, R; Carreras, A; Galvan-Femenia, I; Blay, N; Farre, X; Sumoy, L; Cortes, B; Moreno, V; Kogevinas, M; Garcia-Aymerich, J; Castano-Vinyals, G; Dobano, C; Mercader, JM; Mercader, J; Guindo-Martinez, M; Torrents, D; Gori, M; Picchiotti, N; Tanfoni, M; Renieri, A; Mari, F; Fallerini, C; Daga, S; Baldassarri, M; Fava, F; Frullanti, E; Valentino, F; Doddato, G; Giliberti, A; Bruttini, M; Croci, S; Meloni, I; Beligni, G; Di Sarno, L; Palmieri, M; Carriero, ML; Alaverdian, D; Tita, R; Amitrano, S; Mencarelli, MA; Lo Rizzo, C; Pinto, AM; Montagnani, F; Tumbarello, M; Furini, S; Benetti, E; Zguro, K; Capitani, K; Bianchi, F; Lista, M; Mondelli, MU; Bruno, R; Castelli, F; Quiros-Roldan, E; Degli Antoni, M; Vaghi, M; Rusconi, S; Riva, A; Siano, M; Gabrieli, A; Fabbiani, M; Rossetti, B; Rancan, I; Bargagli, E; Bergantini, L; D'Alessandro, M; Cameli, P; Bennett, D; Franchi, F; Anedda, F; Marcantonio, S; Scolletta, S; Mazzei, MA; Guerrini, S; Cantarini, L; Conticini, E; Frediani, B; Tacconi, D; Spertilli, C; Feri, M; Donati, A; Scala, R; Guidelli, L; Spargi, G; Corridi, M; Nencioni, C; Croci, L; Bandini, M; Piacentini, P; Desanctis, E; Cappelli, S; Caldarelli, GP; Canaccini, A; Verzuri, A; Anemoli, V; Ognibene, A; Pancrazzi, A; Lorubbio, M; Monforte, AD; Miraglia, FG; Girardis, M; Busani, S; Venturelli, S; Antinori, A; Emiliozzi, A; Vergori, A; Francisci, D; Schiaroli, E; Tommasi, A; Paciosi, F; Scotton, PG; Andretta, F; Panese, S; Scaggiante, R; Gatti, F; Della Monica, M; Piscopo, C; Capasso, M; Russo, R; Andolfo, I; Iolascon, A; Merla, G; Fiorentino, G; Castori, M; Carella, M; Aucella, F; Di Biagio, A; Bassetti, M; Masucci, L; Sanguinetti, M; Guarnaccia, A; Valente, S; De Vivo, O; Mandala, M; Giorli, A; Salerni, L; Zucchi, P; Parravicini, P; Giannattasio, F; Trotta, T; Coiro, G; Coviello, DA; Mussini, C; Tavecchia, L; Belli, MA; Mancarella, S; Crotti, L; Parati, G; Rizzi, M; Maggiolo, F; Ripamonti, D; La Rovere, MT; Sarzi-Braga, S; Bussotti, M; Ravaglia, S; Artuso, R; Andreucci, E; Perrella, A; Romani, D; Bergomi, P; Catena, E; Colombo, R; Vincenti, A; Ferri, C; Grassi, D; Pessina, G; Poscente, M; Di Pietro, M; Sabrina, R; Luchi, S; Dei, S; Sanarico, M; Gabbi, C; Ceri, S; Pinoli, P; Raimondi, F; Biscarini, F; Stella, A; Vecchia, M; Mantovani, S; Ludovisi, S; Zanella, I; Cossarizza, A; Parisi, SG; Baratti, S; Squeo, GM; Raggi, P; Marciano, C; Perna, R; Menatti, E; Lena, F; Martinelli, E; Bachetti, T; Suardi, C; Botta, G; Di Domenico, P; Barbieri, C; Tiseo, G; Falcone, M; Acquilini, D; Segala, FV; Petrocelli, P; Baroni, S; van Heel, DA; Hunt, KA; van Heel, D; Trembath, RC; Huang, QQ; Martin, HC; Mason, D; Wright, J; Trivedi, B; Finer, S; Akhtar, S; Anwar, M; Arciero, E; Ashraf, S; Breen, G; Chung, R; Curtis, CJ; Chowdhury, M; Colligan, G; Deloukas, P; Durham, C; Griffiths, C; Hurles, M; Hussain, S; Islam, K; Khan, A; Lavery, C; Lee, SH; Lerner, R; MacArthur, D; MacLaughlin, B; Martin, H; Miah, S; Newman, B; Safa, N; Tahmasebi, F; Griffiths, CJ; Smith, A; Boughton, AP; Li, KW; LeFaive, J; Annis, A; Zollner, S; Wang, JM; Beck, A; Niavarani, A; Sharififard, B; Aliannejad, R; Naderpour, Z; Amirsavadkouhi, A; Tadi, HA; Aleagha, AE; Ahmadi, S; Moghaddam, SBM; Adamsara, A; Saeedi, M; Abdollahi, H; Hosseini, A; Chariyavilaskul, P; Jantarabenjakul, W; Putchareon, O; Torvorapanit, P; Puthanakit, T; Hirankarn, N; Sodsai, P; Chamnanphon, M; Suttichet, TB; Shotelersuk, V; Phokaew, C; Chetruengchai, W; Pongpanich, M; Suchartlikitwong, P; Nilaratanakul, V; Brumpton, B; Hveem, K; Asvold, BO; Willer, C; Rogne, T; Solligard, E; Franke, L; Claringbould, A; Lopera, E; Warmerdam, R; van Blokland, I; Boezen, M; Deelen, P; Vonk, JM; Lanting, P; Ori, APS; Feng, YCA; Weiss, ST; Karlson, EW; Woolley, AE; Smoller, JW; Murphy, SN; Meigs, JB; Green, RC; Perez, EF; Ascolillo, S; Thompson, RC; Beckmann, ND; Sebra, RP; Gettler, K; Salib, I; Zyndorf, M; Schadt, EE; Collins, BL; Levy, T; Buxbaum, JD; Britvan, B; Keller, K; Tang, L; Peruggia, M; Hiester, LL; Niblo, K; Aksentijevich, A; Labkowsky, A; Karp, A; Zlatopolsky, M; Jordan, DM; Chaudhary, K; Cho, JH; Itan, Y; Do, R; Nadkarni, GN; Preuss, M; Loos, RJF; Belbin, GM; Abul-Husn, NS; Kenny, EE; Choi, S; O'Reilly, P; Charney, AW; Huckins, LM; Ferreira, MAR; Abecasis, GR; Cantor, MN; Kosmicki, JA; Horowitz, JE; Baras, A; Yadav, A; Leader, JB; Gass, MC; Justice, AE; Chittoor, G; Josyula, NS; Carey, DJ; Mirshahi, T; Hottenga, JJ; Bartels, M; de Geus, EEJC; Nivard, MMG; Verma, A; Ritchie, MD; Rader, D; Verma, SS; Lucas, A; Bradford, Y; Li, B; Abedalthagafi, M; Al Harthi, F; Alsolm, E; Abu Safieh, L; Alowayn, AM; Alqubaishi, F; Al Mutairi, A; AlBardis, H; Alotaibi, S; Fawzy, MS; Alaamery, M; Massadeh, S; Almutairi, M; Alshareef, A; Suliman, BA; Sawaji, M; AlMalik, A; Alqahtani, S; Baraka, D; Hasanato, R; Mangul, S; Aljawini, N; Albesher, N; Alkwai, S; Alswailm, M; Almohammed, I; Arabi, YM; Mahmoud, ES; Khattab, AK; Halawani, RT; Alahmadey, ZZ; Albakri, JK; Felemban, WA; Al-Awdah, L; Alghamdi, J; AlZahrani, D; AlDhawi, N; Almalki, F; Albeladi, M; Albader, A; AlJohani, S; Al-Afghani, H; Barhoush, E; Alghamdi, B; Jung, J; Alrashed, M; Zeberg, H; Maricic, T; Frithiof, R; Hultstrom, M; Lipcsey, M; Tardif, N; Rooyackers, O; Grip, J; Helgeland, O; Harris, JR; Magnus, P; Lee, Y; Trogstad, LIS; Mangino, M; Spector, TD; Emma, D; Moutsianas, L; Caulfield, MJ; Scott, RH; Rendon, A; Kousathanas, A; Pasko, D; Walker, S; Stuckey, A; Odhams, CA; Rhodes, D; Fowler, T; Chan, G; Arumugam, P; Wilson, DJ; Earle, SG; Lin, SK; Arning, N; Armstrong, J; Rudkin, JK; Spencer, CCA; Koelling, N; Crook, DW; Wyllie, DH; O'Connell, AM; Band, G; Callier, S; Soranzo, N; Zhao, JH; Danesh, J; Di Angelantonio, E; Butterworth, AS; Sun, Y; Huffman, JE; O'Donnell, CJ; Peloso, G; Cho, K; Gaziano, JM; Ho, YL; Tsao, P; Priest, J; Smieszek, SP; Polymeropoulos, C; Polymeropoulos, V; Polymeropoulos, MH; Przychodzen, BP; Fernandez-Cadenas, I; Llucia-Carol, L; Cullell, N; Muino, E; Carcel-Marquez, J; Planas, AM; Perez-Tur, J; DeDiego, ML; Iglesias, LL; Soriano, A; Rico, V; Aguero, D; Bedini, JL; Domingo, C; Robles, V; Lozano, F; Ruiz-Jaen, F; Marquez, L; Gomez, J; Coto, E; Albaiceta, GM; Garcia-Clemente, M; Dalmau, D; Arranz, MJ; Dietl, B; Serra-Llovich, A; Soler, P; Colobran, R; Martin-Nalda, A; Martinez, AP; Bernardo, D; Fiz-Lopez, A; Arribas, E; De La Cal-Sabater, P; Rojo, S; Segura, T; Gonzalez-Villa, E; Serrano-Heras, G; Marti-Fabregas, J; Jimenez-Xarrie, E; Mimbrera, AD; Masjuan, J; Garcia-Madrona, S; Dominguez-Mayoral, A; Villalonga, JM; Menendez-Valladares, P; Chasman, D; Sesso, HD; Manson, JE; Buring, JE; Ridker, PM; Franco, G; Lee, S; Biesecker, L
Nature. 608(7921):E1-E10
Academic Journal
Butler-Laporte, G; Povysil, G; Kosmicki, JA; Cirulli, ET; Drivas, T; Furini, S; Saad, C; Schmidt, A; Olszewski, P; Korotko, U; Quinodoz, M; Celik, E; Kundu, K; Walter, K; Jung, J; Stockwell, AD; Sloofman, LG; Jordan, DM; Thompson, RC; Del Valle, D; Simons, N; Cheng, E; Sebra, R; Schadt, EE; Kim-Schulze, S; Gnjatic, S; Merad, M; Buxbaum, JD; Beckmann, ND; Charney, AW; Przychodzen, B; Chang, T; Pottinger, TD; Shang, N; Brand, F; Fava, F; Mari, F; Chwialkowska, K; Niemira, M; Pula, S; Baillie, JK; Stuckey, A; Salas, A; Bello, X; Pardo-Seco, J; Gomez-Carballa, A; Rivero-Calle, I; Martinon-Torres, F; Ganna, A; Karczewski, KJ; Veerapen, K; Bourgey, M; Bourque, G; Eveleigh, RJ; Forgetta, V; Morrison, D; Langlais, D; Lathrop, M; Mooser, V; Nakanishi, T; Frithiof, R; Hultstrom, M; Lipcsey, M; Marincevic-Zuniga, Y; Nordlund, J; Barrett, KMS; Lee, W; Bolze, A; White, S; Riffle, S; Tanudjaja, F; Sandoval, E; Neveux, I; Dabe, S; Casadei, N; Motameny, S; Alaamery, M; Massadeh, S; Aljawini, N; Almutairi, MS; Arabi, YM; Alqahtani, SA; Al Harthi, FS; Almutairi, A; Alqubaishi, F; Alotaibi, S; Binowayn, A; Alsolm, EA; El Bardisy, H; Fawzy, M; Cai, F; Soranzo, N; Butterworth, A; Geschwind, DH; Arteaga, S; Stephens, A; Butte, MJ; Boutros, PC; Yamaguchi, TN; Tao, S; Eng, S; Sanders, T; Tung, PJ; Broudy, ME; Pan, Y; Gonzalez, A; Chavan, N; Johnson, R; Pasaniuc, B; Yaspan, B; Smieszek, S; Rivolta, C; Bibert, S; Bochud, PY; Dabrowski, M; Zawadzki, P; Sypniewski, M; Kaja, E; Chariyavilaskul, P; Nilaratanakul, V; Hirankarn, N; Shotelersuk, V; Pongpanich, M; Phokaew, C; Chetruengchai, W; Tokunaga, K; Sugiyama, M; Kawai, Y; Hasegawa, T; Naito, T; Namkoong, H; Edahiro, R; Kimura, A; Ogawa, S; Kanai, T; Fukunaga, K; Okada, Y; Imoto, S; Miyano, S; Mangul, S; Abedalthagafi, MS; Zeberg, H; Grzymski, JJ; Washington, NL; Ossowski, S; Ludwig, KU; Schulte, EC; Riess, O; Moniuszko, M; Kwasniewski, M; Mbarek, H; Ismail, SI; Verma, A; Goldstein, DB; Kiryluk, K; Renieri, A; Ferreira, MAR; Richards, JB
PLoS genetics. 18(11):e1010367
Editorial & Opinion
Ambrosino E; Science Division, World Health Organization, Geneva, Switzerland. ambrosinoe@who.int.; Abou Tayoun AN; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, Dubai, United Arab Emirates.; Abramowicz M; Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Zilfalil BA; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.; Boughtwood T; Australian Genomics, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Hamdi Y; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Hubbard T; ELIXIR, Wellcome Genome Campus, Hinxton, UK.; Department of Medical & Molecular Genetics, King's College London, London, UK.; Kato K; Department of Biomedical Ethics and Public Policy, graduate School of Medicine, Osaka University, Suita, Japan.; Lopes-Cendes I; Department of Translational Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Majumder PP; John C. Martin Center for Liver Research and Innovations, Kolkata, India.; Indian Statistical Institute, Kolkata, India.; Mascalzoni D; Department of Public Health and Caring Science, Uppsala University, Uppsala, Switzerland.; Institute for Biomedicine, Eurac Research, Bolzano, Italy.; Ndiaye R; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odonto-Stomatology, University Cheikh Anta DIOP, Dakar, Senegal.; Ramsay M; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Taylor S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Reeder JC; Science Division, World Health Organization, Geneva, Switzerland.; Ross AL; Science Division, World Health Organization, Geneva, Switzerland.
Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
Report
Sriwattanapong K; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Khamwachirapitak C; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Sae-Ear P; Oral Biology Research Center, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Srijunbarl A; Dental Materials R&D Center, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9508565 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-0825 (Electronic) Linking ISSN: 1354523X NLM ISO Abbreviation: Oral Dis Subsets: MEDLINE
Periodical
Tansatit, Montakarn; Kongruttanachok, Narisorn; Kongnak, Walaiwan; Arunpan, Suparp; Maneeshote, Pikul; Buasorn, Vanida; Praphanphoj, Verayuth; Shotelersuk, Vorasuk
American Journal of Medical Genetics. Part A; September 2006, Vol. 140 Issue: 18 p1981-1987, 7p
Academic Journal
Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Bertoli-Avella A; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kallemeijn WW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.; Godwin A; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Lau T; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.; Normand EA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany.; Baggelaar MP; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands.; Ilyas M; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.; Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.; Ganieva M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Fowler B; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Aanicai R; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Tayfun GA; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey.; Al Saman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia.; Alswaid A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia.; Amiri N; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada.; Asilova N; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.; Yeetong P; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.; Azam M; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran.; Monajemi GB; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.; Mohammadi P; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.; Samie S; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.; Banu SH; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Pinto Basto J; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Bauer M; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.; Bauer P; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Beetz C; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.; Issa AH; Department of Neurology, University of Basrah, 61004 Basrah, Iraq.; Eyaid W; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.; Ahmed H; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, 13131-99137 Mashhad, Iran.; Hassanpour K; Non-Communicable Diseases Research Center, Sabzevar University of Medical Sciences, 319 Sabzevar, Iran.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Neurology, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE 68131, USA.; Ibrohimov S; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Abdul-Majeed BA; Molecular Pathology and Genetics, The Pioneer Molecular Pathology Lab, Baghdad 10044, Iraq.; Imdad M; Centre for Human Genetics, Hazara University, 21300 Mansehra, Pakistan.; Isrofilov M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Kaiyal Q; Department of Pediatric Neurology, Clalit Health Care, 2510500 Haifa, Israel.; Khan S; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kirmse B; SOM-Peds-Genetics, University of Mississippi Medical Center, Jackson MS, 39216, USA.; Koster J; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.; Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, 14096-160 São Paulo, Brazil.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-035 Lisboa, Portugal.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Najafi M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rocha ME; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Salpietro V; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Shalata A; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Bruce Rappaport Faculty of Medicine, the Technion institution of Technology, 3200003 Haifa, Israel.; Mahroum M; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Talbeya JK; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Department of Radiology, The Bnai Zion Medical Center, Haifa 31048, Israel.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Vazquez D; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.; Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.; Zaman M; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Schrader TA; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Neuroscience, Pharmacology and Child Health Department, University of Florence, 50139 Florence, Italy.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Gleeson J; Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.; Jamshidi Y; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Vona B; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, 37075 Göttingen, Germany.; Schrader M; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Guille M; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.; Tate EW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.; Jirapatrasilp P; Animal Systematics Research Unit, Department of Biology, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand.; Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.; Assawapitaksakul A; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.; Pholyotha A; Animal Systematics Research Unit, Department of Biology, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand.; Tongkerd P; Animal Systematics Research Unit, Department of Biology, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand. piyorose@hotmail.com.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand. vorasuk.s@chula.ac.th.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand. vorasuk.s@chula.ac.th.; Panha S; Animal Systematics Research Unit, Department of Biology, Faculty of Science, Chulalongkorn University, Bangkok, 10330, Thailand.; Academy of Science, The Royal Society of Thailand, Bangkok, 10300, Thailand.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Academic Journal
Sriwattanapong K; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Khamwachirapitak C; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Sae-Ear P; Oral Biology Research Center, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Sa-Ard-Iam N; Center of Excellence in Periodontal Disease and Dental Implant, Immunology Research Center, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.; Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; International Graduate Program in Geriatric Dentistry and Special Patients Care, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8004996 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2591 (Electronic) Linking ISSN: 01432885 NLM ISO Abbreviation: Int Endod J Subsets: MEDLINE
Academic Journal
Rattanapornsompong K; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.; Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.; Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Wongong, R.; Tongkobpeth, S.; Caengprasath, N.; Shotelersuk, V.; Srichomthong, C.; Od-Ek, P.; Assawapitaksakul, A.; Kijtawornrat, A.; Khongphatthanayothin, A.; Porntaveetus, T.
In: Scientific Reports . (Scientific Reports, December 2024, 14(1))
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