학술논문
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'학술논문'
에서 검색결과 61건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
Clinical Dysmorphology. Jun 26, 2025
Academic Journal
Malawsky, Daniel S. ; van Walree, Eva ; Jacobs, Benjamin M. ; Heng, Teng Hiang ; Huang, Qin Qin ; Sabir, Ataf H. ; Rahman, Saadia ; Sharif, Saghira Malik ; Khan, Ahsan ; Mirkov, Maša Umićević ; Kuwahara, Hiroyuki ; Gao, Xin ; Alkuraya, Fowzan S. ; Posthuma, Danielle ; Newman, William G. ; Griffiths, Christopher J. ; Mathur, Rohini ; van Heel, David A. ; Finer, Sarah ; O’Connell, Jared ; Martin, Hilary C.
In Cell 12 October 2023 186(21):4514-4527
Academic Journal
Mensah, Nana E. ; Sabir, Ataf H. ; Bond, Andrew ; Roworth, Wendy ; Irving, Melita ; Davies, Angela C. ; Ahn, Joo Wook
In Genetics in Medicine April 2022 24(4):811-820
Academic Journal
Sabir, Ataf H.; Singh, Ananya; Elley, George; Wassemer, Evangeline; Foster, Katharine; Sloman, Melissa; Lim, Derek
Clinical Dysmorphology. 30:115-119
Academic Journal
Lin, Yuh-Charn ; Niceta, Marcello ; Muto, Valentina ; Vona, Barbara ; Pagnamenta, Alistair T. ; Maroofian, Reza ; Beetz, Christian ; van Duyvenvoorde, Hermine ; Dentici, Maria Lisa ; Lauffer, Peter ; Vallian, Sadeq ; Ciolfi, Andrea ; Pizzi, Simone ; Bauer, Peter ; Grüning, Nana-Maria ; Bellacchio, Emanuele ; Del Fattore, Andrea ; Petrini, Stefania ; Shaheen, Ranad ; Tiosano, Dov ; Halloun, Rana ; Pode-Shakked, Ben ; Albayrak, Hatice Mutlu ; Işık, Emregül ; Wit, Jan M. ; Dittrich, Marcus ; Freire, Bruna L. ; Bertola, Debora R. ; Jorge, Alexander A.L. ; Barel, Ortal ; Sabir, Ataf H. ; Al Tenaiji, Amal M.J. ; Taji, Sulaima M. ; Al-Sannaa, Nouriya ; Al-Abdulwahed, Hind ; Digilio, Maria Cristina ; Irving, Melita ; Anikster, Yair ; Bhavani, Gandham S.L. ; Girisha, Katta M. ; Haaf, Thomas ; Taylor, Jenny C. ; Dallapiccola, Bruno ; Alkuraya, Fowzan S. ; Yang, Ruey-Bing ; Tartaglia, Marco
In The American Journal of Human Genetics 7 January 2021 108(1):115-133
Academic Journal
Ataf H. Sabir; Elizabeth Morley; Jameela Sheikh; Alistair D. Calder; Ana Beleza-Meireles; Moira S. Cheung; Alessandra Cocca; Mattias Jansson; Suzanne Lillis; Yogen Patel; Shu Yau; Christine M. Hall; Amaka C. Offiah; Melita Irving
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Academic Journal
Harkness, J Robert ; McDermott, John H ; Marsden, Shea ; Jamieson, Peter ; Metcalfe, Kay A ; Khan, Naz ; Macken, William L ; Pitceathly, Robert D S ; Record, Christopher J ; Maroofian, Reza ; Kleopa, Kleopas ; Christodoulou, Kyproula ; Sabir, Ataf ; Islam, Lily ; Santra, Saikat ; Durmusalioglu, Enise Avci ; Atik, Tahir ; Isik, Esra ; Cogulu, Ozgur ; Urquhart, Jill E ; Beaman, Glenda M ; Demain, Leigh A ; Jackson, Adam ; Blakes, Alexander J M ; Byers, Helen J ; Bennett, Hayley ; Lin, Wei-Hsiang ; Adamson, Antony ; Patel, Sanjai ; Yue, Wyatt W ; Taylor, Robert W ; Reunert, Janine ; Marquardt, Thorsten ; Buchert, Rebecca ; Haack, Tobias ; Losch, Heike ; Ryba, Lukas ; Lassuthova, Petra ; Valkovičová, Radka ; Haberlová, Jana ; Lauerová, Barbora ; Trúsiková, Eva ; Polavarapu, Kiran ; Kilicarslan, Ozge Aksel ; Lochmüller, Hanns ; Zamani, Mina ; Chamanrou, Niloofar ; Shariati, Gholamreza ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Maddirevula, Sateesh ; AlMuhaizea, Muhammad ; Alkuraya, Fowzan S ; Horvath, Rita ; Gungor, Serdal ; Manzur, Adnan ; Munot, Pinki ; Matthews, Rachael ; Banka, Siddharth ; Reilly, Mary M ; Bennett, Daimark ; O’Keefe, Raymond T ; Newman, William G
In The Lancet Neurology August 2025 24(8):667-680
Academic Journal
Clinical Dysmorphology. Jan 17, 2022
Academic Journal
Mathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E de Bruijn; Ana Belén Iglesias-Romero; Erica G M Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K Holtes; Stephen H Tsang; Zelia Corradi; K Bailey Freund; Stefanida Shliaga; Daan M Panneman; Rebekkah J Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D N Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Mirella T S Barboni; Miriam Bauwens; Tamar Ben-Yosef; David G Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J F Boon; Kari Branham; Alexis Ceecee Britten-Jones; Kinga M Bujakowska; Elizabeth L Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Peter Charbel Issa; Naomi Chadderton; Luísa Coutinho-Santos; Stephen P Daiger; Elfride De Baere; Berta de la Cerda; John N De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L Duncan; G Jane Farrar; Nicolas Feltgen; Lidia Fernández-Caballero; Juliana M Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C Gardner; Christian Gilissen; Kensuke Goto; Roser Gonzàlez-Duarte; Sam Griffiths-Jones; Tobias B Haack; Lonneke Haer-Wigman; Alison J Hardcastle; Takaaki Hayashi; Elise Héon; Alexander Hoischen; Josephine P Holtan; Carel B Hoyng; Manuel Benjamin B Ibanez; Chris F Inglehearn; Takeshi Iwata; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Krisztina Knézy; Caroline C W Klaver; Robert K Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M Lamey; Bart P Leroy; María Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Rina Leibu; Siying Lin; Petra Liskova; Irma Lopez; Victor R de J López-Rodríguez; Omar A Mahroo; Gaël Manes; Martin McKibbin; Terri L McLaren; Isabelle Meunier; Michel Michaelides; José M Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A Pierce; Emily Place; Raj Ramesar; Florence Andrée Rasquin; Gillian I Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Eddera; Ataf H Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M Santos; Margherita Scarpato; Hendrik P N Scholl; Dror Sharon; Sabrina Giovanna Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Katarina Stingl; Akiko Suga; Lori S Sullivan; Viktória Szabó; Jacek P Szaflik; Gita Taurina; Carmel Toomes; Viet H Tran; Miltiadis K Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Joseph van Aerschot; L. Ingeborgh van den Born; Andrew R Webster; Laura Whelan; Bernd Wissinger; Georgia G Yioti; Kazutoshi Yoshitake; Juan C Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I Jacob; Frans P M Cremers; Winston Lee; Jamie M Ellingford; David Stanek; Carlo Rivolta; Susanne Roosing
medRxiv
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, SH , Corradi, Z, Freund, K B, Shliaga, S, Panneman, D M, Hitti-Malin, R J, Ali, M, AlTalbishi, A, Andréasson, S, Ansari, G, Arno, G, Astuti, G D N, Ayuso, C, Ayyagari, R, Banfi, S, Banin, E, Barboni, M T S, Bauwens, M, Ben-Yosef, T, Birch, D G, Biswas, P, Blanco-Kelly, F, Bocquet, B, Boon, C J F, Branham, K, Britten-Jones, A C, Bujakowska, K M, Cadena, E L, Calzetti, G, Cancellieri, F, Cattaneo, L, Issa, P C, Chadderton, N, Coutinho-Santos, L, Daiger, S P, De Baere, E, de la Cerda, B, De Roach, J N, De Zaeytijd, J, Derks, R, Dhaenens, C-M, Dudakova, L, Duncan, J L, Farrar, G J, Feltgen, N, Fernández-Caballero, L, Sallum, J M F, Gana, S, Garanto, A, Gardner, J C, Gilissen, C, Goto, K, Gonzàlez-Duarte, R, Griffiths-Jones, S, Haack, T B, Haer-Wigman, L, Hardcastle, A J, Hayashi, T, Héon, E, Hoischen, A, Holtan, J P, Hoyng, C B, Ibanez, M B B, Inglehearn, C F, Iwata, T, Jones, K, Kalatzis, V, Kamakari, S, Karali, M, Kellner, U, Knézy, K, Klaver, C C W, Koenekoop, R K, Kohl, S, Kominami, T, Kühlewein, L, Lamey, T M, Leroy, B P, Martín-Gutiérrez, M P, Martins, N, Mauring, L, Leibu, R, Lin, S, Liskova, P, Lopez, I, López-Rodríguez, V R D J, Mahroo, O A, Manes, G, McKibbin, M, McLaren, T L, Meunier, I, Michaelides, M, Millán, J M, Mizobuchi, K, Mukherjee, R, Nagy, Z Z, Neveling, K, Ołdak, M, Oorsprong, M, Pan, Y, Papachristou, A, Percesepe, A, Pfau, M, Pierce, E A, Place, E, Ramesar, R, Rasquin, F A, Rice, G I, Roberts, L, Rodríguez-Hidalgo, M, Ruiz-Eddera, J, Sabir , A H , Sajiki, A F, Sánchez-Barbero, A I, Sarma, A S, Sangermano, R, Santos, C M, Scarpato, M, Scholl, H P N, Sharon, D, Signorini, S G, Simonelli, F, Sousa, A B, Stefaniotou, M, Stingl, K, Suga, A, Sullivan, L S, Szabó, V, Szaflik, J P, Taurina, G, Toomes, C, Tran, V H , Tsilimbaris, M K, Tsoka, P, Vaclavik, V, Vajter, M, Valeina, S, Valente, E M, Valentine, C, Valero, R, van Aerschot, J, van den Born, L I, Webster, A R, Whelan, L, Wissinger, B, Yioti, G G, Yoshitake, K, Zenteno, J C, Zeuli, R, Zuleger, T, Landau, C, Jacob, A I, Cremers, F P M, Lee, W, Ellingford, J M, Stanek, D, Rivolta, C & Roosing, S 2025 'De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa' medRxiv, medRxiv. https://doi.org/10.1101/2025.01.06.24317169
medRxiv : the preprint server for health sciences
United States
United Kingdom
Quinodoz, M, Rodenburg, K, Cvackova, Z, Kaminska, K, de Bruijn, S E, Iglesias-Romero, A B, Boonen, E G M, Ullah, M, Zomer, N, Folcher, M, Bijon, J, Holtes, L K, Tsang, S
Academic Journal
Clinical Dysmorphology. 31:84-90
Academic Journal
Ataf H, Sabir; Jameela, Sheikh; Vasantha, Gowda; Colin, Wallis; Surendra, Singham; Dipalee, Durve; Alessandra, Cocca; Muriel, Holder-Espinasse; Melita, Irving
Clinical Dysmorphology. 30:142-146
Academic Journal
Hyder, Zerin; Van Paesschen, Wim; Sabir, Ataf; Sansbury, Francis H.; Burke, Katherine B.; Khan, Naz; Chandler, Kate E.; Cooper, Nicola S.; Wright, Ronnie; McHale, Edward; Van Esch, Hilde; Banka, Siddharth
European Journal of Human Genetics. 29(9):1377-1383
Academic Journal
Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; Mensah, Nana Ekuntan; Ahn, Joo Wook; Cheung, Moira S.; Irving, Melita
Clinical Dysmorphology. Jul 01, 2021 30(3):154-158
Academic Journal
Sabir, Ataf H; Sheikh, Jameela; Gowda, Vasantha; Wallis, Colin; Singham, Surendra; Durve, Dipalee; Cocca, Alessandra; Holder-Espinasse, Muriel; Irving, Melita
Clinical Dysmorphology. Jul 01, 2021 30(3):142-146
Academic Journal
Ataf H, Sabir; Juhi, Singhal; Jessica, Man; Nana Ekuntan, Mensah; Joo Wook, Ahn; Moira S, Cheung; Melita, Irving
Clinical Dysmorphology. 30:154-158
Academic Journal
Ataf H. Sabir; Jameela Sheikh; Ananya Singh; Elizabeth Morley; Alessandra Cocca; Moira S. Cheung; Melita Irving
American Journal of Medical Genetics Part A. 185:73-82
Academic Journal
Clinical Dysmorphology. 29:177-181
Academic Journal
Clinical Dysmorphology. Jul 06, 2020
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[검색어] Sabir, Ataf H.
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