arrow
返回
M

Muhammad Imran Khan

College of Veterinary Sciences

28H指数
130论文数
2.5K被引数
收录论文 24
发表时间
err分享
err收藏
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
err2023-01-01
err8
errOAAI
errYahya, Samar; Smith, Claire E. L.; Poulter, James A.; McKibbin, Martin; Arno, Gavin; Ellingford, Jamie; Kampjarvi, Kati; Khan, Muhammad, I; Cremers, Frans P. M.; Hardcastle, Alison J.; Castle, Bruce; Steel, David H. W.; Webster, Andrew R.; Black, Graeme C.; El-Asrag, Mohammed E.; Ali, Manir; Toomes, Carmel; Inglehearn, Chris F.
err分享
err收藏
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations
err2020-09-16
err16
errOAAI
errBeryozkin, Avigail; Khateb, Samer; Idrobo-Robalino, Carlos Alberto; Khan, Muhammad Imran; Cremers, Frans P. M.; Obolensky, Alexey; Hanany, Mor; Mezer, Eedy; Chowers, Itay; Newman, Hadas; Ben-Yosef, Tamar; Sharon, Dror; Banin, Eyal
err分享
err收藏
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
err2019-09-15
err88
errOAAI
errSharon, Dror; Ben-Yosef, Tamar; Goldenberg-Cohen, Nitza; Pras, Eran; Gradstein, Libe; Soudry, Shiri; Mezer, Eedy; Zur, Dinah; Abbasi, Anan H.; Zeitz, Christina; Cremers, Frans P. M.; Khan, Muhammad, I; Levy, Jaime; Rotenstreich, Ygal; Birk, Ohad S.; Ehrenberg, Miriam; Leibu, Rina; Newman, Hadas; Shomron, Noam; Baniri, Eyal; Perlman, Ido
err分享
err收藏
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
err2019-08-01
err145
errOAAI
errSangermano, Riccardo; Garanto, Alejandro; Khan, Mubeen; Runhart, Esmee H.; Bauwens, Miriam; Bax, Nathalie M.; van den Born, L. Ingeborgh; Khan, Muhammad Imran; Cornelis, Stephanie S.; Verheij, Joke B. G. M.; Pott, Jan-Willem R.; Thiadens, Alberta A. H. J.; Klaver, Caroline C. W.; Puech, Bernard; Meunier, Isabelle; Naessens, Sarah; Arno, Gavin; Fakin, Ana; Carss, Keren J.; Raymond, F. Lucy; Webster, Andrew R.; Dhaenens, Claire-Marie; Stoehr, Heidi; Grassmann, Felix; Weber, Bernhard H. F.; Hoyng, Carel B.; De Baere, Elfride; Albert, Silvia; Collin, Rob W. J.; Cremers, Frans P. M.
err分享
err收藏
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
err2019-06-28
err32
errOAAI
errNikopoulos, Konstantinos; Cisarova, Katarina; Quinodoz, Mathieu; Koskiniemi-Kuendig, Hanna; Miyake, Noriko; Farinelli, Pietro; Rehman, Atta Ur; Khan, Muhammad Imran; Prunotto, Andrea; Akiyama, Masato; Kamatani, Yoichiro; Terao, Chikashi; Miya, Fuyuki; Ikeda, Yasuhiro; Ueno, Shinji; Fuse, Nobuo; Murakami, Akira; Wada, Yuko; Terasaki, Hiroko; Sonoda, Koh-Hei; Ishibashi, Tatsuro; Kubo, Michiaki; Cremers, Frans P. M.; Kutalik, Zoltan; Matsumoto, Naomichi; Nishiguchi, Koji M.; Nakazawa, Toru; Rivolta, Carlo
err分享
err收藏
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease
err2019-06-18
err42
errOAAI
errKhan, Mubeen; Cornelis, Stephanie S.; Khan, Muhammad Imran; Elmelik, Duaa; Manders, Eline; Bakker, Sem; Derks, Ronny; Neveling, Kornelia; van DeVorst, Maartje; Gilissen, Christian; Meunier, Isabelle; Defoort, Sabine; Puech, Bernard; Devos, Aurore; Schulz, Heidi L.; Stoehr, Heidi; Grassmann, Felix; Weber, Bernhard H. F.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
err分享
err收藏
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
err2018-08-29
err29
errOAAI
errLi, Lin; Jiao, Xiaodong; D'Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi-Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A.; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V.; Michaelides, Michel; Moore, Anthony T.; Akdemir, Zeynep Hande Coban; Jhangiani, Shalini; Lupski, James R.; Cremers, Frans P. M.; Qamar, Raheel; Salman, Ahmed; Chilton, John; Self, Jay; Ayyagari, Radha; Kabir, Firoz; Naeem, Muhammad Asif; Ali, Muhammad; Akram, Javed; Sieving, Paul A.; Riazuddin, Sheikh; Baple, Emma L.; Riazuddin, S. Amer; Crosby, Andrew H.; Hejtmancik, J. Fielding
err分享
err收藏
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa
err2017-12-26
err26
PREAI
errMesschaert, Muriel; Haer-Wigman, Lonneke; Khan, Muhammad I.; Cremers, Frans P. M.; Collin, Rob W. J.
err分享
err收藏
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci剥脱综合征的遗传关联研究确定了LOXL1的保护性罕见变异和五个新的易感位点
err2017-05-29
err107
errOAAI
errAung, Tin; Ozaki, Mineo; Lee, Mei Chin; Schlotzer-Schrehardt, Ursula; Thorleifsson, Gudmar; Mizoguchi, Takanori; Igo, Robert P., Jr.; Haripriya, Aravind; Williams, Susan E.; Astakhov, Yury S.; Orr, Andrew C.; Burdon, Kathryn P.; Nakano, Satoko; Mori, Kazuhiko; Abu-Amero, Khaled; Hauser, Michael; Li, Zheng; Prakadeeswari, Gopalakrishnan; Bailey, Jessica N. Cooke; Cherecheanu, Alina Popa; Kang, Jae H.; Nelson, Sarah; Hayashi, Ken; Manabe, Shin-ichi; Kazama, Shigeyasu; Zarnowski, Tomasz; Inoue, Kenji; Irkec, Murat; Coca-Prados, Miguel; Sugiyama, Kazuhisa; Jarvela, Irma; Schlottmann, Patricio; Lerner, S. Fabian; Lamari, Hasnaa; Nilgun, Yildirim; Bikbov, Mukharram; Park, Ki Ho; Cha, Soon Cheol; Yamashiro, Kenji; Zenteno, Juan C.; Jonas, Jost B.; Kumar, Rajesh S.; Perera, Shamira A.; Chan, Anita S. Y.; Kobakhidze, Nino; George, Ronnie; Vijaya, Lingam; Do, Tan; Edward, Deepak P.; de Juan Marcos, Lourdes; Pakravan, Mohammad; Moghimi, Sasan; Ideta, Ryuichi; Bach-Holm, Daniella; Kappelgaard, Per; Wirostko, Barbara; Thomas, Samuel; Gaston, Daniel; Bedard, Karen; Greer, Wenda L.; Yang, Zhenglin; Chen, Xueyi; Huang, Lulin; Sang, Jinghong; Jia, Hongyan; Jia, Liyun; Qiao, Chunyan; Zhang, Hui; Liu, Xuyang; Zhao, Bowen; Wang, Ya-Xing; Xu, Liang; Leruez, Stephanie; Reynier, Pascal; Chichua, George; Tabagari, Sergo; Uebe, Steffen; Zenkel, Matthias; Berner, Daniel; Mossboeck, Georg; Weisschuh, Nicole; Hoja, Ursula; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Founti, Panayiota; Chatzikyriakidou, Anthi; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Ghosh, Arkasubhra; Shetty, Rohit; Porporato, Natalia; Saravanan, Vijayan; Venkatesh, Rengaraj; Shivkumar, Chandrashekaran; Kalpana, Narendran; Sarangapani, Sripriya; Kanavi, Mozhgan R.; Beni, Afsaneh Naderi; Yazdani, Shahin; Lashay, Alireza; Naderifar, Homa; Khatibi, Nassim; Fea, Antonio; Lavia, Carlo; Dallorto, Laura; Rolle, Teresa; Frezzotti, Paolo; Paoli, Daniela; Salvi, Erika; Manunta, Paolo; Mori, Yosai; Miyata, Kazunori; Higashide, Tomomi; Chihara, Etsuo; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Miyake, Masahiro; Gotoh, Norimoto; Matsuda, Fumihiko; Yoshimura, Nagahisa; Ikeda, Yoko; Ueno, Morio; Sotozono, Chie; Jeoung, Jin Wook; Sagong, Min; Park, Kyu Hyung; Ahn, Jeeyun; Cruz-Aguilar, Marisa; Ezzouhairi, Sidi M.; Rafei, Abderrahman; Chong, Yaan Fun; Ng, Xiao Yu; Goh, Shuang Ru; Chen, Yueming; Yong, Victor H. K.; Khan, Muhammad Imran; Olawoye, Olusola O.; Ashaye, Adeyinka O.; Ugbede, Idakwo; Onakoya, Adeola; Kizor-Akaraiwe, Nkiru; Teekhasaenee, Chaiwat; Suwan, Yanin; Supakontanasan, Wasu; Okeke, Suhanya; Uche, Nkechi J.; Asimadu, Ifeoma; Ayub, Humaira; Akhtar, Farah; Kosior-Jarecka, Ewa; Lukasik, Urszula; Lischinsky, Ignacio; Castro, Vania; Perez Grossmann, Rodolfo; Megevand, Gordana Sunaric; Roy, Sylvain; Dervan, Edward; Silke, Eoin; Rao, Aparna; Sahay, Priti; Fornero, Pablo; Cuello, Osvaldo; Sivori, Delia; Zompa, Tamara; Mills, Richard A.; Souzeau, Emmanuelle; Mitchell, Paul; Wang, Jie Jin; Hewitt, Alex W.; Coote, Michael; Crowston, Jonathan G.; Astakhov, Sergei Y.; Akopov, Eugeny L.; Emelyanov, Anton; Vysochinskaya, Vera; Kazakbaeva, Gyulli; Fayzrakhmanov, Rinat; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Aljasim, Leyla Ali; Chowbay, Balram; Foo, Jia Nee; Soh, Raphael Q.; Sim, Kar Seng; Xie, Zhicheng; Cheong, Augustine W. O.; Mok, Shi Qi; Soo, Hui Meng; Chen, Xiao Yin; Peh, Su Qin; Heng, Khai Koon; Husain, Rahat; Ho, Su-Ling; Hillmer, Axel M.; Cheng, Ching-Yu; Escudero-Dominguez, Francisco A.; Gonzalez-Sarmiento, Rogelio; Martinon-Torres, Frederico; Salas, Antonio; Pathanapitoon, Kessara; Hansapinyo, Linda; Wanichwecharugruang, Boonsong; Kitnarong, Naris; Sakuntabhai, Anavaj; Nguyn, Hip X.; Nguyn, Giang T. T.; Nguyn, TrNh V.; Zenz, Werner; Binder, Alexander; Klobassa, Daniela S.; Hibberd, Martin L.; Davila, Sonia; Herms, Stefan; Nothen, Markus M.; Moebus, Susanne; Rautenbach, Robyn M.; Ziskind, Ari; Carmichael, Trevor R.; Ramsay, Michele; Alvarez, Lydia; Garcia, Montserrat; Gonzalez-Iglesias, Hector; Rodriguez-Calvo, Pedro P.; Fernandez-Vega Cueto, Luis; Oguz, Cilingir; Tamcelik, Nevbahar; Atalay, Eray; Batu, Bilge; Aktas, Dilek; Kasim, Burcu; Wilson, M. Roy; Coleman, Anne L.; Liu, Yutao; Challa, Pratap; Herndon, Leon; Kuchtey, Rachel W.; Kuchtey, John; Curtin, Karen; Chaya, Craig J.; Crandall, Alan; Zangwill, Linda M.; Wong, Tien Yin; Nakano, Masakazu; Kinoshita, Shigeru; den Hollander, Anneke I.; Vesti, Eija; Fingert, John H.; Lee, Richard K.; Sit, Arthur J.; Shingleton, Bradford J.; Wang, Ningli; Cusi, Daniele; Qamar, Raheel; Kraft, Peter; Pericak-Vance, Margaret A.; Raychaudhuri, Soumya; Heegaard, Steffen; Kivela, Tero; Reis, Andre; Kruse, Friedrich E.; Weinreb, Robert N.; Pasquale, Louis R.; Haines, Jonathan L.; Thorsteinsdottir, Unnur; Jonasson, Fridbert; Allingham, R. Rand; Milea, Dan; Ritch, Robert; Kubota, Toshiaki; Tashiro, Kei; Vithana, Eranga N.; Micheal, Shazia; Topouzis, Fotis; Craig, Jamie E.; Dubina, Michael; Sundaresan, Periasamy; Stefansson, Kari; Wiggs, Janey L.; Pasutto, Francesca; Khor, Chiea Chuen
err分享
err收藏
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
err2016-10-06
err31
errOAAI
errMaria, Maleeha; Lamers, Ideke J. C.; Schmidts, Miriam; Ajmal, Muhammad; Jaffar, Sulman; Ullah, Ehsan; Mustafa, Bilal; Ahmad, Shakeel; Nazmutdinova, Katia; Hoskins, Bethan; van Wijk, Erwin; Koster-Kamphuis, Linda; Khan, Muhammad Imran; Beales, Phil L.; Cremers, Frans P. M.; Roepman, Ronald; Azam, Maleeha; Arts, Heleen H.; Qamar, Raheel
err分享
err收藏
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
err2016-09-01
err51
errOAAI
errNikopoulos, Konstantinos; Farinelli, Pietro; Giangreco, Basilio; Tsika, Chrysanthi; Royer-Bertrand, Beryl; Mbefo, Martial K.; Bedoni, Nicola; Kjellstrom, Ulrika; El Zaoui, Ikram; Di Gioia, Silvio Alessandro; Balzano, Sara; Cisarova, Katarina; Messina, Andrea; Decembrini, Sarah; Plainis, Sotiris; Blazaki, Styliani V.; Khan, Muhammad Imran; Micheal, Shazia; Boldt, Karsten; Ueffing, Marius; Moulin, Alexandre P.; Cremers, Frans P. M.; Roepman, Ronald; Arsenijevic, Yvan; Tsilimbaris, Miltiadis K.; Andreasson, Sten; Rivolta, Carlo
err分享
err收藏
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
err2016-04-04
err131
errOAAI
errKhor, Chiea Chuen; Do, Tan; Jia, Hongyan; Nakano, Masakazu; George, Ronnie; Abu-Amero, Khaled; Duvesh, Roopam; Chen, Li Jia; Li, Zheng; Nongpiur, Monisha E.; Perera, Shamira A.; Qiao, Chunyan; Wong, Hon-Tym; Sakai, Hiroshi; de Melo, Monica Barbosa; Lee, Mei-Chin; Chan, Anita S.; Azhany, Yaakub; Dao, Thi Lam Huong; Ikeda, Yoko; Perez-Grossmann, Rodolfo A.; Zarnowski, Tomasz; Day, Alexander C.; Jonas, Jost B.; Tam, Pancy O. S.; Tran, Tuan Anh; Ayub, Humaira; Akhtar, Farah; Micheal, Shazia; Chew, Paul T. K.; Aljasim, Leyla A.; Dada, Tanuj; Luu, Tam Thi; Awadalla, Mona S.; Kitnarong, Naris; Wanichwecharungruang, Boonsong; Aung, Yee Yee; Mohamed-Noor, Jelinar; Vijayan, Saravanan; Sarangapani, Sripriya; Husain, Rahat; Jap, Aliza; Baskaran, Mani; Goh, David; Su, Daniel H.; Wang, Huaizhou; Yong, Vernon K.; Yip, Leonard W.; Trinh, Tuyet Bach; Makornwattana, Manchima; Nguyen, Thanh Thu; Leuenberger, Edgar U.; Park, Ki-Ho; Wiyogo, Widya Artini; Kumar, Rajesh S.; Tello, Celso; Kurimoto, Yasuo; Thapa, Suman S.; Pathanapitoon, Kessara; Salmon, John F.; Sohn, Yong Ho; Fea, Antonio; Ozaki, Mineo; Lai, Jimmy S. M.; Tantisevi, Visanee; Khaing, Chaw Chaw; Mizoguchi, Takanori; Nakano, Satoko; Kim, Chan-Yun; Tang, Guangxian; Fan, Sujie; Wu, Renyi; Meng, Hailin; Thi Thuy Giang Nguyen; Tien Dat Tran; Ueno, Morio; Martinez, Jose Maria; Ramli, Norlina; Aung, Yin Mon; Reyes, Rigo Daniel; Vernon, Sephen A.; Fang, Seng Kheong; Xie, Zhicheng; Chen, Xiao Yin; Foo, Jia Nee; Sim, Kar Seng; Wong, Tina T.; Quek, Desmond T.; Venkatesh, Rengaraj; Kavitha, Srinivasan; Krishnadas, Subbiah R.; Soumittra, Nagaswamy; Shantha, Balekudaru; Lim, Boon-Ang; Ogle, Jeanne; de Vasconcellos, Jose P. C.; Costa, Vital P.; Abe, Ricardo Y.; de Souza, Bruno B.; Sng, Chelvin C.; Aquino, Maria C.; Kosior-Jarecka, Ewa; Fong, Guillermo Barreto; Tamanaja, Vania Castro; Fujita, Ricardo; Jiang, Yuzhen; Waseem, Naushin; Low, Sancy; Huan Nguyen Pham; Al-Shahwan, Sami; Craven, E. Randy; Khan, Muhammad Imran; Dada, Rrima; Mohanty, Kuldeep; Faiq, Muneeb A.; Hewitt, Alex W.; Burdon, Kathryn P.; Gan, Eng Hui; Prutthipongsit, Anuwat; Patthanathamrongkasem, Thipnapa; Catacutan, Mary Ann T.; Felarca, Irene R.; Liao, Chona S.; Rusmayani, Emma; Istiantoro, Vira Wardhana; Consolandi, Giulia; Pignata, Giulia; Lavia, Carlo; Rojanapongpun, Prin; Mangkornkanokpong, Lerprat; Chansangpetch, Sunee; Chan, Jonathan C. H.; Choy, Bonnie N. K.; Shum, Jennifer W. H.; Hlaing May Than; Oo, Khin Thida; Han, Aye Thi; Yong, Victor H.; Ng, Xiao-Yu; Goh, Shuang Ru; Chong, Yaan Fun; Hibberd, Martin L.; Seielstad, Mark; Png, Eileen; Dunstan, Sarah J.; Chau, Nguyen Van Vinh; Bei, Jinxin; Zeng, Yi Xin; Karkey, Abhilasha; Basnyat, Buddha; Pasutto, Francesca; Paoli, Daniela; Frezzotti, Paolo; Wang, Jie Jin; Mitchell, Paul; Fingert, John H.; Allingham, R. Rand; Hauser, Michael A.; Lim, Soon Thye; Chew, Soo Hong; Ebstein, Richard P.; Sakuntabhai, Anavaj; Park, Kyu Hyung; Ahn, Jeeyun; Boland, Greet; Snippe, Harm; Stead, Richard; Quino, Raquel; Zaw, Su Nyunt; Lukasik, Urszula; Shetty, Rohit; Zahari, Mimiwati; Bae, Hyoung Won; Oo, Nay Lin; Kubota, Toshiaki; Manassakorn, Anita; Ho, Wing Lau; Dallorto, Laura; Hwang, Young Hoon; Kiire, Christine A.; Kuroda, Masako; Djamal, Zeiras Eka; Peregrino, Jovell Ian M.; Ghosh, Arkasubhra; Jeoung, Jin Wook; Hoan, Tung S.; Srisamran, Nuttamon; Sandragasu, Thayanithi; Set, Saw Htoo; Doan, Vi Huyen; Bhattacharya, Shomi S.; Ho, Ching-Lin; Tan, Donald T.; Sihota, Ramanjit; Loon, Seng-Chee; Mori, Kazuhiko; Kinoshita, Shigeru; den Hollander, Anneke I.; Qamar, Raheel; Wang, Ya-Xing; Teo, Yik Y.; Tai, E-Shyong; Hartleben-Matkin, Curt; Lozano-Giral, David; Saw, Seang Mei; Cheng, Ching-Yu; Zenteno, Juan C.; Pang, Chi Pui; Bui, Huong T. T.; Hee, Owen; Craig, Jamie E.; Edward, Deepak P.; Yonahara, Michiko; Neto, Jamil Miguel; Guevara-Fujita, Maria L.; Xu, Liang; Ritch, Robert; Liza-Sharmini, Ahmad Tajudin; Wong, Tien Y.; Al-Obeidan, Saleh; Do, Nhu Hon; Sundaresan, Periasamy; Tham, Clement C.; Foster, Paul J.; Vijaya, Lingam; Tashiro, Kei; Vithana, Eranga N.; Wang, Ningli; Aung, Tin
err分享
err收藏
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
err2015-08-06
err44
errOAAI
errVodopiutz, Julia; Seidl, Rainer; Prayer, Daniela; Khan, M. Imran; Mayr, Johannes A.; Streubel, Berthold; Steiss, Jens-Oliver; Hahn, Andreas; Csaicsich, Dagmar; Castro, Christel; Assoum, Mirna; Mueller, Thomas; Wieczorek, Dagmar; Mancini, Grazia M. S.; Sadowski, Carolin E.; Levy, Nicolas; Megarbane, Andre; Godbole, Koumudi; Schanze, Denny; Hildebrandt, Friedhelm; Delague, Valerie; Janecke, Andreas R.; Zenker, Martin
err分享
err收藏
Guillain Barre Syndrome and Autoimmune Hepatitis: Is There a Relationship?
err2014-10-01
err2
PREAI
errKamal, Sehrish; Khan, Muhammad Ali; Khan, Muhammad Imran; Hammad, Tariq; Alastal, Yaseen; Sodeman, Thomas
err分享
err收藏
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma原发性先天性和原发性开角型青光眼患者新的CYP1B1基因突变的鉴定
err2014-09-23
err26
PREAI
errMicheal, Shazia; Ayub, Humaira; Zafar, Saemah N.; Bakker, Bjorn; Ali, Mahmood; Akhtar, Farah; Islam, Farrah; Khan, Muhammad I.; Qamar, Raheel; den Hollander, Anneke I.
err分享
err收藏
IMPG2-Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement
err2014-06-23
err32
errOAAI
errvan Huet, Ramon A. C.; Collin, Rob W. J.; Siemiatkowska, Anna M.; Klaver, Caroline C. W.; Hoyng, Carel B.; Simonelli, Francesca; Khan, Muhammad I.; Qamar, Raheel; Banin, Eyal; Cremers, Frans P. M.; Theelen, Thomas; Den Hollander, Anneke I.; van den Born, L. Ingeborgh; Klevering, B. Jeroen
err分享
err收藏
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
err2014-04-15
err53
PREAI
errAjmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; Khan, Yar Muhammad; Azam, Maleeha; Waheed, Nadia Khalida; Hamel, Christian P.; Ben-Yosef, Tamar; De Baere, Elfride; Koenekoop, Robert K.; Collin, Rob W. J.; Qamar, Raheel; Cremers, Frans P. M.
err分享
err收藏
Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population
err2014-01-01
err18
PREAI
errCorton, Marta; Avila-Fernandez, Almudena; Vallespin, Elena; Isabel Lopez-Molina, Maria; Almoguera, Berta; Martin-Garrido, Esther; Tatu, Sorina D.; Khan, M. Imran; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Brion, Maria; Garcia-Sandoval, Blanca; Cremers, Frans P. M.; Carracedo, Angel; Ayuso, Carmen
err分享
err收藏