يعرض 1 - 10 نتائج من 89 نتيجة بحث عن '"Weiss, Simone"', وقت الاستعلام: 1.65s تنقيح النتائج
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    المصدر: Terkelsen , T , Mikkelsen , N S , Bak , E N , Vad-Nielsen , J , Blechingberg , J , Weiss , S , Drue , S O , Andersen , H , Andresen , B S , Bak , R O & Jensen , U B 2024 , ' CRISPR activation to characterize splice-altering variants in easily accessible cells ' , American Journal of Human Genetics , vol. 111 , no. 2 , pp. 309-322 . https://doi.org/10.1016/j.ajhg.2023.12.024Test

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    المساهمون: Institute for Molecular Medicine Finland, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Medicum, University Management, Genomics of Neurological and Neuropsychiatric Disorders

    وصف الملف: application/pdf

    العلاقة: We thank all the families that participated in this study. Further, we acknowledge Pirjo Keranen, BCO sequencing core, for excellent technical assistance. This study was supported by the Academy of Finland Grants 266719 and 308009, the S. Juselius Foundation, the Emil Aaltonen Foundation, and the Jane and Aatos Erkko Foundation to P.K. We also thank the Scribendi proofreading team for language editing.; Rahikkala , E , Myllykoski , M , Hinttala , R , Vieira , P , Nayebzadeh , N , Weiss , S , Plomp , A S , Bittner , R E , Kurki , M I , Kuismin , O , Lewis , A M , Väisänen , M-L , Kokkonen , H , Westermann , J , Bernert , G , Tuominen , H , Palotie , A , Aaltonen , L , Yang , Y , Potocki , L , Moilanen , J , van Koningsbruggen , S , Wang , X , Schmidt , W M , Koivunen , P & Uusimaa , J 2019 , ' Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) ' , Genetics In medicine , vol. 21 , no. 10 , pp. 2355-2363 . https://doi.org/10.1038/s41436-019-0503-4Test; ORCID: /0000-0002-2527-5874/work/97266529; ORCID: /0000-0001-6839-4286/work/101502748; 28fd6f2d-933a-4d8f-a916-3cc3b0f45b95; http://hdl.handle.net/10138/306749Test; 000488530100025

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