HuGE Literature Finder
Records 1-8
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Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.
Annals of hematology 2021 Jan . Janusz Kamila, Izquierdo Marta Martín, Cadenas Félix López, Ramos Fernando, Sánchez Jesús María Hernández, Lumbreras Eva, Robledo Cristina, Del Real Javier Sánchez, Caballero Juan Carlos, Collado Rosa, Bernal Teresa, Pedro Carme, Insunza Andrés, de Paz Raquel, Xicoy Blanca, Salido Eduardo, García Joaquín Sánchez, Mínguez Sandra Santos, García Cristina Miguel, Muñoz Ana María Simón, Barba Mercedes Sánchez, Rivas Jesús María Hernández, Abáigar María, Campelo María Dí |
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Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.
Human molecular genetics 2018 Feb 27 (3): 546-558. Tönjes Anke, Scholz Markus, Krüger Jacqueline, Krause Kerstin, Schleinitz Dorit, Kirsten Holger, Gebhardt Claudia, Marzi Carola, Grallert Harald, Ladenvall Claes, Heyne Henrike, Laurila Esa, Kriebel Jennifer, Meisinger Christa, Rathmann Wolfgang, Gieger Christian, Groop Leif, Prokopenko Inga, Isomaa Bo, Beutner Frank, Kratzsch Jürgen, Fischer-Rosinsky Antje, Pfeiffer Andreas, Krohn Knut, Spranger Joachim, Thiery Joachim, Blüher Matthias, Stumvoll Michael, Kovacs Pet |
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High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
Orphanet journal of rare diseases 2015 10 (1): 60. Mizutari Kunio, Mutai Hideki, Namba Kazunori, Miyanaga Yuko, Nakano Atsuko, Arimoto Yukiko, Masuda Sawako, Morimoto Noriko, Sakamoto Hirokazu, Kaga Kimitaka, Matsunaga Tats |
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
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Novel mutations in the USH1C gene in Usher syndrome patients.
Molecular vision 2010 16 2948-54. Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar |
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Human genetics 2005 Mar 116 (4): 292-9. Ouyang Xiao Mei, Yan Denise, Du Li Lin, Hejtmancik J Fielding, Jacobson Samuel G, Nance Walter E, Li An Ren, Angeli Simon, Kaiser Muriel, Newton Valerie, Brown Steve D M, Balkany Thomas, Liu Xue Zho |
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Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.
Molecular vision 2005 11 (): 929-33. Bolz Hanno, Ebermann Inga, Gal Andre |
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- Page last updated:Sep 16, 2021
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