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Human genetics

The qualitative assessment of optical coherence tomography and the central retinal sensitivity in patients with retinitis pigmentosa

Aiko Hara, Mitsuru Nakazawa, Masaaki Saito, Yukihiko Suzuki

published 11 May 2020

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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H. T. M. Jongejan, Annelies E. Brandsma, Jenny A. Visser, Elisabeth F. C. van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M. J. Boon, Mieke M. van Haelst, Erica L. T. van den Akker

published 08 May 2020

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A new linear regression-like residual for survival analysis, with application to genome wide association studies of time-to-event data

Veronica J. Vieland, Sang-Cheol Seok, William C. L. Stewart

published 04 May 2020

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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, María Valverde Gomez, Javier Gomez Roman, Ana Belén Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodríguez-Monte, Maria Jesus del Cerro, Pablo Lapunzina, Pilar Escribano-Subias

published 29 Apr 2020

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Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population

Costin Leu, Tom G. Richardson, Tobias Kaufmann, Dennis van der Meer, Ole A. Andreassen, Lars T. Westlye, Robyn M. Busch, George Davey Smith, Dennis Lal

published 28 Apr 2020

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A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter

Stefan Coassin, Natascha Hermann-Kleiter, Margot Haun, Simone Wahl, Rory Wilson, Bernhard Paulweber, Sonja Kunze, Thomas Meitinger, Konstantin Strauch, Annette Peters, Melanie Waldenberger, Florian Kronenberg, Claudia Lamina

published 28 Apr 2020

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Gains through selection for grain yield in a winter wheat breeding program

Dennis N. Lozada, Brian P. Ward, Arron H. Carter

published 28 Apr 2020

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Improving predictive models for Alzheimer’s disease using GWAS data by incorporating misclassified samples modeling

Brissa-Lizbeth Romero-Rosales, Jose-Gerardo Tamez-Pena, Humberto Nicolini, Maria-Guadalupe Moreno-Treviño, Victor Trevino

published 23 Apr 2020

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Mutations in the tail domain of MYH3 contributes to atrial septal defect

Sathiya Maran, Robson Ee, Siti Aisyah Faten, Choi Sy Bing, Kooi Yeong Khaw, Swee-Hua Erin Lim, Kok-Song Lai, Wan Pauzi Wan Ibrahim, Mohd Rizal Mohd Zain, Kok Gan Chan, Siew Hua Gan, Huay Lin Tan

published 21 Apr 2020

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Nosocomial transmission of extensively drug resistant Acinetobacter baumannii strains in a tertiary level hospital

Paúl Alexis López-Durán, Salvador Fonseca-Coronado, Lucila Maritza Lozano-Trenado, Sergio Araujo-Betanzos, Deniria Alejandra Rugerio-Trujillo, Gilberto Vaughan, Elsa Saldaña-Rivera

published 17 Apr 2020

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Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy

Javier Ramos-Maqueda, Francisco Bermúdez-Jiménez, Rosa Macías Ruiz, Mercedes Cabrera Ramos, Manuel Molina Lerma, Pablo Sánchez Millán, Miguel Álvarez López, Luis Tercedor Sánchez, Juan Jiménez-Jáimez

published 16 Apr 2020

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A framework for gene mapping in wheat demonstrated using the Yr7 yellow rust resistance gene

Laura-Jayne Gardiner, Pauline Bansept-Basler, Mohamed El-Soda, Anthony Hall, Donal M. O’Sullivan

published 15 Apr 2020

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A population-specific low-frequency variant of SLC22A12 (p.W258*) explains nearby genome-wide association signals for serum uric acid concentrations among Koreans

Sun-Wha Im, Jeesoo Chae, Ho-Young Son, Belong Cho, Jong-Il Kim, Jin-Ho Park

published 09 Apr 2020

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