檢索結果 - Laura Mauring
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Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation 由 Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller
發表在 Frontiers in Genetics (2020-08-01)獲取全文
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Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking 由 Weixiong He, Peter J. van der Most, Jue-Sheng Ong, Liang-Dar Hwang, Yeda Wu, Morten S. Magnø, Jelle Vehof, Kristi Krebs, Laura Mauring, Katrin Õunap, Erik Abner, Nicholas G. Martin, Denis Plotnikov, Chen Jiang, Ronald B. Melles, Puya Gharahkhani, Harold Snieder, Teele Palumaa, Kuldar Kaljurand, Jeremy A. Guggenheim, David A. Mackey, Elizabeth C. Engle, Hélène Choquet, Lifelines Cohort Study, Stuart MacGregor
發表在 Nature Communications (2025-08-01)獲取全文
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