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Human genetics

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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Quantitative phenotyping of shell suture strength in walnut (Juglans regia L.) enhances precision for detection of QTL and genome-wide association mapping

Gina M. Sideli, Annarita Marrano, Sara Montanari, Charles A. Leslie, Brian J. Allen, Hao Cheng, Patrick J. Brown, David B. Neale

published 09 Apr 2020

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Phenogenon: Gene to phenotype associations for rare genetic diseases

Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

published 09 Apr 2020

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Loci associated with conception rate in crossbred beef heifers

K. F. Oliver, T. W. Geary, J. N. Kiser, J. M. Galliou, M. L. Van Emon, C. M. Seabury, T. E. Spencer, H. L. Neibergs

published 09 Apr 2020

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Genetic relatedness of serial rectal isolates of Acinetobacter baumannii in an adult intensive care unit of a tertiary hospital in Kuwait

Ghayda Al-Hashem, Vincent O. Rotimi, M. John Albert

published 02 Apr 2020

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Rare disease in Malaysia: Challenges and solutions

Asrul Akmal Shafie, Azuwana Supian, Mohamed Azmi Ahmad Hassali, Lock-Hock Ngu, Meow-Keong Thong, Hatijah Ayob, Nathorn Chaiyakunapruk

published 02 Apr 2020

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Genomics knowledge and attitudes among European public health professionals: Results of a cross-sectional survey

Annalisa Rosso, Erica Pitini, Elvira D’Andrea, Marco Di Marco, Brigid Unim, Valentina Baccolini, Corrado De Vito, Carolina Marzuillo, Floris Barnhoorn, Dineke Zeegers Paget, Paolo Villari

published 02 Apr 2020

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BWGS: A R package for genomic selection and its application to a wheat breeding programme

Gilles Charmet, Louis-Gautier Tran, Jérôme Auzanneau, Renaud Rincent, Sophie Bouchet

published 02 Apr 2020

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Genetic predisposition for vitamin D deficiency is not associated with adverse outcome of very low birth weight infants: A cohort study from the German Neonatal Network

Clara Mannhardt, Tanja K. Rausch, Mats Ingmar Fortmann, Isabelle Swoboda, Alexander Humberg, Juliane Spiegler, Wolfgang Göpel

published 31 Mar 2020

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Genetic landscape of preterm birth due to cervical insufficiency: Comprehensive gene analysis and patient next-generation sequencing data interpretation

Ludmila Volozonoka, Dmitrijs Rots, Inga Kempa, Anna Kornete, Dace Rezeberga, Linda Gailite, Anna Miskova

published 26 Mar 2020

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Wheat individual grain-size variance originates from crop development and from specific genetic determinism

Aurore Beral, Renaud Rincent, Jacques Le Gouis, Christine Girousse, Vincent Allard

published 26 Mar 2020

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Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D’Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A. Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri

published 23 Mar 2020

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On the etiology of internalizing and externalizing problem behavior: A twin-family study

Amelie Nikstat, Rainer Riemann

published 23 Mar 2020

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