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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I., García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A., Elgoyhen, Ana B., del Castillo, Francisco J., Dalamón, Viviana, del Castillo, Ignacio
Published in Biomedicines (31.10.2023)
Published in Biomedicines (31.10.2023)
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Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects
Engelhardt, Karin R., Grimbacher, Bodo
Published in Journal of allergy and clinical immunology (01.02.2012)
Published in Journal of allergy and clinical immunology (01.02.2012)
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Truncations of Titin Causing Dilated Cardiomyopathy
Herman, Daniel S, Lam, Lien, Taylor, Matthew R.G, Wang, Libin, Teekakirikul, Polakit, Christodoulou, Danos, Conner, Lauren, DePalma, Steven R, McDonough, Barbara, Sparks, Elizabeth, Teodorescu, Debbie Lin, Cirino, Allison L, Banner, Nicholas R, Pennell, Dudley J, Graw, Sharon, Merlo, Marco, Di Lenarda, Andrea, Sinagra, Gianfranco, Bos, J. Martijn, Ackerman, Michael J, Mitchell, Richard N, Murry, Charles E, Lakdawala, Neal K, Ho, Carolyn Y, Barton, Paul J.R, Cook, Stuart A, Mestroni, Luisa, Seidman, Christine E, Seidman, J.G
Published in The New England journal of medicine (16.02.2012)
Published in The New England journal of medicine (16.02.2012)
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COVID-19 controls causing a kerfuffle
Szeghy, Rachel E., Ratchford, Stephen M.
Published in Journal of applied physiology (1985) (01.11.2022)
Published in Journal of applied physiology (1985) (01.11.2022)
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First Report of Nothophoma quercina Causing Brown Spot Disease on 'Huanghua' Pear (Pyrus pyrifolia Nakai) in China
Tang, Xiaomei, Yin, Ruichang, Xiao, Ziwen, Lu, Fen, Zeng, Xiangling, Liu, Lun, Ye, Zhenfeng, Liu, Li, Heng, Wei, Zhu, Li Wu, Jia, Bing
Published in Plant disease (01.08.2023)
Published in Plant disease (01.08.2023)
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First report of Fusarium equiseti causing bulb rot on lily (Lilium 'White planet' ) in China
Yang, Panpan, Hao, Zehui, Qu, Yuxiao, Liang, Rui, Xu, Leifeng, Zhang, Kezhong, Ming, Jun
Published in Plant disease (01.09.2023)
Published in Plant disease (01.09.2023)
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A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes
Degen, Martin, Girousi, Eleftheria, Feldmann, Julia, Parisi, Ludovica, La Scala, Giorgio C., Schnyder, Isabelle, Schaller, André, Katsaros, Christos
Published in Frontiers in cell and developmental biology (29.09.2020)
Published in Frontiers in cell and developmental biology (29.09.2020)
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First Report of Colletotrichum spaethianum Causing Anthracnose on Jiaotou ( Allium chinense G. Don) in China
Fan, Changyin, Su, Jia En, Jin, Ruizhu, Zhong, Jie, Li, Xiao Gang, Chen, Yi, Yang, Zhijuan
Published in Plant disease (02.12.2024)
Published in Plant disease (02.12.2024)
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Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)
Krøigård, Anne Bruun, Frost, Morten, Larsen, Martin Jakob, Ousager, Lilian Bomme, Frederiksen, Anja Lisbeth
Published in Bone (New York, N.Y.) (01.11.2016)
Published in Bone (New York, N.Y.) (01.11.2016)
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First report of Ralstonia pseudosolanacearum phylotype I sequevar 14 causing bacterial wilt on tomato ( Solanum lycopersicum ) and eggplant ( Solanum melongena ) in North Carolina, USA
Magar, Prem, Huerta, Alejandra I, Cellier, Gilles, Louws, Frank, Adhikari, Tika
Published in Plant disease (01.05.2025)
Published in Plant disease (01.05.2025)
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Bisifusarium lunatum causing cladode soft rot in pear cactus ( Nopalea cochenillifera L. Salm-Dyck) in Brazil
Xavier, Lucimere Maria da Silva, de Farias, Otilia Ricardo, Barbosa, Paulo Roberto Ramos, Varanda, Carla Marisa Reis, Materatski, Patrick, Oliveira, Valdeir de Souza, Porcino, Mirelly Miguel, Barros, Ana Paula, Silva, Hilderlande Florêncio da, Batista, Fabiane Rabelo da Costa, C Correia, Kamila, Nascimento, Luciana Cordeiro do
Published in Plant disease (01.07.2024)
Published in Plant disease (01.07.2024)
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First report of Curvularia spicifera (≡ Bipolaris spicifera ) causing spathe blight and leaf spot disease of pearl millet ( Cenchrus americanus ) in India
Mahadevakumar, S, Mahesh, M, Maharachchikumbura, S S N, Lavanya, S N, Rajashekara, H, Prakash, G, Vikas, K, Tarasatyavati, C, Chandranayaka, S
Published in Plant disease (01.10.2024)
Published in Plant disease (01.10.2024)
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