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1دورية أكاديمية
المؤلفون: Reinout Peeters, Freya Peeters, Julie Jacob, Dafina Draganova, Ingele Casteels, Koen Poesen, Irina Balikova
المصدر: Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 498-506 (2023)
مصطلحات موضوعية: electronegative electroretinogram, melanoma-associated retinopathy, paraneoplastic syndrome, autoimmune retinopathy, antiretinal antibodies, Ophthalmology, RE1-994
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Hwei Wuen Chan, Filip Van den Broeck, Axelle Cools, Sophie Walraedt, Inge Joniau, Hannah Verdin, Irina Balikova, Stefaan Van Nuffel, Patricia Delbeke, Elfride De Baere, Bart P. Leroy, Fanny Nerinckx
المصدر: Frontiers in Medicine, Vol 10 (2023)
مصطلحات موضوعية: paediatric cataract, congenital cataract, nystagmus, galactosaemia, torches, 27G vitrectomy, Medicine (General), R5-920
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: AAAS, ALADIN, Triple A syndrome, OCT, retina, neurodegeneration, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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المؤلفون: Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell
المصدر: LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged
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5
المؤلفون: Florence Rasquin, Irina Balikova, L. Van Bol
المصدر: Journal Français d'Ophtalmologie. 44:e623-e627
مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, Sorsby fundus dystrophy, business.industry, medicine, business, Peripheral
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6
المؤلفون: Tom Van Hoorde, Bart P. Leroy, Irina Balikova, Mattias Van Heetvelde, Hannah Verdin, Elfride De Baere, Dimitri Roels, Philippe Huyghe, Elke O. Kreps, Fanny Nerinckx
المصدر: Ophthalmic Genetics. 42:493-499
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, genetic structures, media_common.quotation_subject, Nonsense, Visual Acuity, Iris, Muscle Proteins, Cataract Extraction, Consanguinity, Slit Lamp Microscopy, Ectopia Lentis, Mixed Function Oxygenases, Frameshift mutation, Craniofacial Abnormalities, Young Adult, Exon, Ophthalmology, Exome Sequencing, medicine, Humans, Ectopia lentis, Genetics (clinical), Genetic testing, media_common, medicine.diagnostic_test, biology, business.industry, Siblings, Calcium-Binding Proteins, Membrane Proteins, Exons, medicine.disease, eye diseases, ASPH, Codon, Nonsense, Pediatrics, Perinatology and Child Health, biology.protein, Female, sense organs, Bleb (medicine), business
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7
المؤلفون: Irina Balikova, Julie Jacob, Ellen Denayer, Dorien Herijgers, Peter Witters, Ingele Casteels
المصدر: Ophthalmic Genetics. 42:480-485
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Visual acuity, genetic structures, Amelogenesis Imperfecta, Hearing Loss, Sensorineural, Visual Acuity, Nails, Malformed, 030105 genetics & heredity, Fundus (eye), Slit Lamp Microscopy, Macular Edema, Retina, Tonometry, Ocular, 03 medical and health sciences, 0302 clinical medicine, Electroretinography, medicine, Humans, Amelogenesis imperfecta, Child, Genetics (clinical), Retrospective Studies, business.industry, Siblings, Membrane Proteins, Dystrophy, medicine.disease, Pedigree, Ophthalmology, Mutation, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, ATPases Associated with Diverse Cellular Activities, Female, Sensorineural hearing loss, PEX1, sense organs, medicine.symptom, business, Cone-Rod Dystrophies, Tomography, Optical Coherence, PEX6, Retinal Dystrophies, Follow-Up Studies
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المؤلفون: Nawid, Faizi, Ingele, Casteels, Bruno, Termote, Paul, Coucke, Elfride, De Baere, Marieke, De Bruyne, Irina, Balikova
المصدر: Ophthalmic genetics. 43(5)
مصطلحات موضوعية: Cerebellar Ataxia, Apraxias, Mutation, Myopia, Cogan Syndrome, Humans, Pedigree
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9
المؤلفون: Victoria van Renterghem, Catheline Vilain, Koenraad Devriendt, Ingele Casteels, Guillaume Smits, Julie Soblet, Irina Balikova
المصدر: European Journal of Medical Genetics. 66:104729
مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)
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المؤلفون: Christel Condroyer, M Cordonnier, Christina Zeitz, L Vallee, Irina Balikova, M Delle Fave
المصدر: Ophthalmic Genetics. 42:296-299
مصطلحات موضوعية: 0301 basic medicine, Genetics, Congenital stationary night blindness, Retina, Mutation, Retinal Disorder, genetic structures, business.industry, 030105 genetics & heredity, Compound heterozygosity, medicine.disease_cause, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, medicine.anatomical_structure, Night vision, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Medicine, Missense mutation, sense organs, business, Genetics (clinical), TRPM1