日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

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, Manuel Benjamin B 4th; 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

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma

拉脱维亚原发性先天性青光眼患者队列中CYP1B1及其他前节发育不良相关基因的遗传分析

Elksne, Eva; Lace, Baiba; Stavusis, Janis; Tvoronovica, Anastasija; Zayakin, Pawel; Elksnis, Eriks; Ozolins, Arturs; Micule, Ieva; Valeina, Sandra; Inashkina, Inna

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

U4 和 U6 snRNA 的新生突变和遗传性显性突变会导致视网膜色素变性。

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; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Issa, Peter Charbel; Chadderton, Naomi; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; 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; Fernández-Caballero, Lidia; Sallum, Juliana M Ferraz; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Goto, Kensuke; Gonzàlez-Duarte, Roser; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Knézy, Krisztina; Klaver, Caroline C W; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leroy, Bart P; Martín-Gutiérrez, María Pilar; Martins, Nelson; Mauring, Laura; Leibu, Rina; Lin, Siying; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahroo, Omar A; Manes, Gaël; 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; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Eddera, 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 Giovanna; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stingl, Katarina; Suga, Akiko; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; van Aerschot, Joseph; van den Born, L Ingeborgh; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Rivolta, Carlo; Roosing, Susanne

Preliminary Results of New Modification of Vertical Muscle Transposition to Enhance Abducting Force in Sixth Nerve Palsy

垂直肌肉移位新改良法增强第六神经麻痹外展力的初步结果

Santa Heede, William Astle, Emi Sanders, Irina Kovalevskaya, Sandra Valeina, Uwe Griebenow

Global Retinoblastoma Presentation and Analysis by National Income Level

全球视网膜母细胞瘤病例报告及按国家收入水平划分的分析

Fabian, Ido Didi; Abdallah, Elhassan; Abdullahi, Shehu U; Abdulqader, Rula A; Adamou Boubacar, Sahadatou; Ademola-Popoola, Dupe S; Adio, Adedayo; Afshar, Armin R; Aggarwal, Priyanka; Aghaji, Ada E; Ahmad, Alia; Akib, Marliyanti N R; Al Harby, Lamis; Al Ani, Mouroge H; Alakbarova, Aygun; Portabella, Silvia Alarcón; Al-Badri, Safaa A F; Alcasabas, Ana Patricia A; Al-Dahmash, Saad A; Alejos, Amanda; Alemany-Rubio, Ernesto; Alfa Bio, Amadou I; Alfonso Carreras, Yvania; Al-Haddad, Christiane; Al-Hussaini, Hamoud H Y; Ali, Amany M; Alia, Donjeta B; Al-Jadiry, Mazin F; Al-Jumaily, Usama; Alkatan, Hind M; All-Eriksson, Charlotta; Al-Mafrachi, Ali A R M; Almeida, Argentino A; Alsawidi, Khalifa M; Al-Shaheen, Athar A S M; Al-Shammary, Entissar H; Amiruddin, Primawita O; Antonino, Romanzo; Astbury, Nicholas J; Atalay, Hatice T; Atchaneeyasakul, La-Ongsri; Atsiaya, Rose; Attaseth, Taweevat; Aung, Than H; Ayala, Silvia; Baizakova, Baglan; Balaguer, Julia; Balayeva, Ruhengiz; Balwierz, Walentyna; Barranco, Honorio; Bascaran, Covadonga; Beck Popovic, Maja; Benavides, Raquel; Benmiloud, Sarra; Bennani Guebessi, Nissrine; Berete, Rokia C; Berry, Jesse L; Bhaduri, Anirban; Bhat, Sunil; Biddulph, Shelley J; Biewald, Eva M; Bobrova, Nadia; Boehme, Marianna; Boldt, H C; Bonanomi, Maria Teresa B C; Bornfeld, Norbert; Bouda, Gabrielle C; Bouguila, Hédi; Boumedane, Amaria; Brennan, Rachel C; Brichard, Bénédicte G; Buaboonnam, Jassada; Calderón-Sotelo, Patricia; Calle Jara, Doris A; Camuglia, Jayne E; Cano, Miriam R; Capra, Michael; Cassoux, Nathalie; Castela, Guilherme; Castillo, Luis; Català-Mora, Jaume; Chantada, Guillermo L; Chaudhry, Shabana; Chaugule, Sonal S; Chauhan, Argudit; Chawla, Bhavna; Chernodrinska, Violeta S; Chiwanga, Faraja S; Chuluunbat, Tsengelmaa; Cieslik, Krzysztof; Cockcroft, Ruellyn L; Comsa, Codruta; Correa, Zelia M; Correa Llano, Maria G; Corson, Timothy W; Cowan-Lyn, Kristin E; Csóka, Monika; Cui, Xuehao; Da Gama, Isac V; Dangboon, Wantanee; Das, Anirban; Das, Sima; Davanzo, Jacquelyn M; Davidson, Alan; De Potter, Patrick; Delgado, Karina Q; Demirci, Hakan; Desjardins, Laurence; Diaz Coronado, Rosdali Y; Dimaras, Helen; Dodgshun, Andrew J; Donaldson, Craig; Donato Macedo, Carla R; Dragomir, Monica D; Du, Yi; Du Bruyn, Magritha; Edison, Kemala S; Eka Sutyawan, I Wayan; El Kettani, Asmaa; Elbahi, Amal M; Elder, James E; Elgalaly, Dina; Elhaddad, Alaa M; Elhassan, Moawia M Ali; Elzembely, Mahmoud M; Essuman, Vera A; Evina, Ted Grimbert A; Fadoo, Zehra; Fandiño, Adriana C; Faranoush, Mohammad; Fasina, Oluyemi; Fernández, Delia D P G; Fernández-Teijeiro, Ana; Foster, Allen; Frenkel, Shahar; Fu, Ligia D; Fuentes-Alabi, Soad L; Gallie, Brenda L; Gandiwa, Moira; Garcia, Juan L; García Aldana, David; Gassant, Pascale Y; Geel, Jennifer A; Ghassemi, Fariba; Girón, Ana V; Gizachew, Zelalem; Goenz, Marco A; Gold, Aaron S; Goldberg-Lavid, Maya; Gole, Glen A; Gomel, Nir; Gonzalez, Efren; Gonzalez Perez, Graciela; González-Rodríguez, Liudmira; Garcia Pacheco, Henry N; Graells, Jaime; Green, Liz; Gregersen, Pernille A; Grigorovski, Nathalia D A K; Guedenon, Koffi M; Gunasekera, D Sanjeeva; Gündüz, Ahmet K; Gupta, Himika; Gupta, Sanjiv; Hadjistilianou, Theodora; Hamel, Patrick; Hamid, Syed A; Hamzah, Norhafizah; Hansen, Eric D; Harbour, J William; Hartnett, M Elizabeth; Hasanreisoglu, Murat; Hassan, Sadiq; Hassan, Shadab; Hederova, Stanislava; Hernandez, Jose; Hernandez, Lorelay Marie Carcamo; Hessissen, Laila; Hordofa, Diriba F; Huang, Laura C; Hubbard, G B; Hummlen, Marlies; Husakova, Kristina; Hussein Al-Janabi, Allawi N; Ida, Russo; Ilic, Vesna R; Jairaj, Vivekaraj; Jeeva, Irfan; Jenkinson, Helen; Ji, Xunda; Jo, Dong Hyun; Johnson, Kenneth P; Johnson, William J; Jones, Michael M; Kabesha, Theophile B Amani; Kabore, Rolande L; Kaliki, Swathi; Kalinaki, Abubakar; Kantar, Mehmet; Kao, Ling-Yuh; Kardava, Tamar; Kebudi, Rejin; Kepak, Tomas; Keren-Froim, Naama; Khan, Zohora J; Khaqan, Hussain A; Khauv, Phara; Kheir, Wajiha J; Khetan, Vikas; Khodabande, Alireza; Khotenashvili, Zaza; Kim, Jonathan W; Kim, Jeong Hun; Kiratli, Hayyam; Kivelä, Tero T; Klett, Artur; Komba Palet, Jess Elio Kosh; Krivaitiene, Dalia; Kruger, Mariana; Kulvichit, Kittisak; Kuntorini, Mayasari W; Kyara, Alice; Lachmann, Eva S; Lam, Carol P S; Lam, Geoffrey C; Larson, Scott A; Latinovic, Slobodanka; Laurenti, Kelly D; Le, Bao Han A; Lecuona, Karin; Leverant, Amy A; Li, Cairui; Limbu, Ben; Long, Quah Boon; López, Juan P; Lukamba, Robert M; Lumbroso, Livia; Luna-Fineman, Sandra; Lutfi, Delfitri; Lysytsia, Lesia; Magrath, George N; Mahajan, Amita; Majeed, Abdul Rahim; Maka, Erika; Makan, Mayuri; Makimbetov, Emil K; Manda, Chatonda; Martín Begue, Nieves; Mason, Lauren; Mason, John O 3rd; Matende, Ibrahim O; Materin, Miguel; Mattosinho, Clarissa C D S; Matua, Marchelo; Mayet, Ismail; Mbumba, Freddy B; McKenzie, John D; Medina-Sanson, Aurora; Mehrvar, Azim; Mengesha, Aemero A; Menon, Vikas; Mercado, Gary John V D; Mets, Marilyn B; Midena, Edoardo; Mishra, Divyansh K C; Mndeme, Furahini G; Mohamedani, Ahmed A; Mohammad, Mona T; Moll, Annette C; Montero, Margarita M; Morales, Rosa A; Moreira, Claude; Mruthyunjaya, Prithvi; Msina, Mchikirwa S; Msukwa, Gerald; Mudaliar, Sangeeta S; Muma, Kangwa I; Munier, Francis L; Murgoi, Gabriela; Murray, Timothy G; Musa, Kareem O; Mushtaq, Asma; Mustak, Hamzah; Muyen, Okwen M; Naidu, Gita; Nair, Akshay Gopinathan; Naumenko, Larisa; Ndoye Roth, Paule Aïda; Nency, Yetty M; Neroev, Vladimir; Ngo, Hang; Nieves, Rosa M; Nikitovic, Marina; Nkanga, Elizabeth D; Nkumbe, Henry; Nuruddin, Murtuza; Nyaywa, Mutale; Obono-Obiang, Ghislaine; Oguego, Ngozi C; Olechowski, Andrzej; Oliver, Scott C N; Osei-Bonsu, Peter; Ossandon, Diego; Paez-Escamilla, Manuel A; Pagarra, Halimah; Painter, Sally L; Paintsil, Vivian; Paiva, Luisa; Pal, Bikramjit P; Palanivelu, Mahesh Shanmugam; Papyan, Ruzanna; Parrozzani, Raffaele; Parulekar, Manoj; Pascual Morales, Claudia R; Paton, Katherine E; Pawinska-Wasikowska, Katarzyna; Pe'er, Jacob; Peña, Armando; Peric, Sanja; Pham, Chau T M; Philbert, Remezo; Plager, David A; Pochop, Pavel; Polania, Rodrigo A; Polyakov, Vladimir G; Pompe, Manca T; Pons, Jonathan J; Prat, Daphna; Prom, Vireak; Purwanto, Ignatius; Qadir, Ali O; Qayyum, Seema; Qian, Jiang; Rahman, Ardizal; Rahman, Salman; Rahmat, Jamalia; Rajkarnikar, Purnima; Ramanjulu, Rajesh; Ramasubramanian, Aparna; Ramirez-Ortiz, Marco A; Raobela, Léa; Rashid, Riffat; Reddy, M Ashwin; Reich, Ehud; Renner, Lorna A; Reynders, David; Ribadu, Dahiru; Riheia, Mussagy M; Ritter-Sovinz, Petra; Rojanaporn, Duangnate; Romero, Livia; Roy, Soma R; Saab, Raya H; Saakyan, Svetlana; Sabhan, Ahmed H; Sagoo, Mandeep S; Said, Azza M A; Saiju, Rohit; Salas, Beatriz; San Román Pacheco, Sonsoles; Sánchez, Gissela L; Sayalith, Phayvanh; Scanlan, Trish A; Schefler, Amy C; Schoeman, Judy; Sedaghat, Ahad; Seregard, Stefan; Seth, Rachna; Shah, Ankoor S; Shakoor, Shawkat A; Sharma, Manoj K; Sherief, Sadik T; Shetye, Nandan G; Shields, Carol L; Siddiqui, Sorath Noorani; Sidi Cheikh, Sidi; Silva, Sónia; Singh, Arun D; Singh, Niharika; Singh, Usha; Singha, Penny; Sitorus, Rita S; Skalet, Alison H; Soebagjo, Hendrian D; Sorochynska, Tetyana; Ssali, Grace; Stacey, Andrew W; Staffieri, Sandra E; Stahl, Erin D; Stathopoulos, Christina; Stirn Kranjc, Branka; Stones, David K; Strahlendorf, Caron; Suarez, Maria Estela Coleoni; Sultana, Sadia; Sun, Xiantao; Sundy, Meryl; Superstein, Rosanne; Supriyadi, Eddy; Surukrattanaskul, Supawan; Suzuki, Shigenobu; Svojgr, Karel; Sylla, Fatoumata; Tamamyan, Gevorg; Tan, Deborah; Tandili, Alketa; Tarrillo Leiva, Fanny F; Tashvighi, Maryam; Tateshi, Bekim; Tehuteru, Edi S; Teixeira, Luiz F; Teh, Kok Hoi; Theophile, Tuyisabe; Toledano, Helen; Trang, Doan L; Traoré, Fousseyni; Trichaiyaporn, Sumalin; Tuncer, Samuray; Tyau-Tyau, Harba; Umar, Ali B; Unal, Emel; Uner, Ogul E; Urbak, Steen F; Ushakova, Tatiana L; Usmanov, Rustam H; Valeina, Sandra; van Hoefen Wijsard, Milo; Varadisai, Adisai; Vasquez, Liliana; Vaughan, Leon O; Veleva-Krasteva, Nevyana V; Verma, Nishant; Victor, Andi A; Viksnins, Maris; Villacís Chafla, Edwin G; Vishnevskia-Dai, Vicktoria; Vora, Tushar; Wachtel, Antonio E; Wackernagel, Werner; Waddell, Keith; Wade, Patricia D; Wali, Amina H; Wang, Yi-Zhuo; Weiss, Avery; Wilson, Matthew W; Wime, Amelia D C; Wiwatwongwana, Atchareeya; Wiwatwongwana, Damrong; Wolley Dod, Charlotte; Wongwai, Phanthipha; Xiang, Daoman; Xiao, Yishuang; Yam, Jason C; Yang, Huasheng; Yanga, Jenny M; Yaqub, Muhammad A; Yarovaya, Vera A; Yarovoy, Andrey A; Ye, Huijing; Yousef, Yacoub A; Yuliawati, Putu; Zapata López, Arturo M; Zein, Ekhtelbenina; Zhang, Chengyue; Zhang, Yi; Zhao, Junyang; Zheng, Xiaoyu; Zhilyaeva, Katsiaryna; Zia, Nida; Ziko, Othman A O; Zondervan, Marcia; Bowman, Richard