يعرض 1 - 20 نتائج من 137 نتيجة بحث عن '"Lauffer, Peter"', وقت الاستعلام: 0.62s تنقيح النتائج
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    Academic Journal

    المصدر: van der Laan , L , Silva , A , Kleinendorst , L , Rooney , K , Haghshenas , S , Lauffer , P , Alanay , Y , Bhai , P , Brusco , A , de Munnik , S , de Vries , B B A , Vega , A D , Engelen , M , Herkert , J C , Hochstenbach , R , Hopman , S , Kant , S G , Kira , R , Kato , M , Keren , B , Kroes , H Y , Levy , M A , ....

    وصف الملف: application/pdf

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    المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Helsinki and Uusimaa Hospital District

    وصف الملف: application/pdf

    Relation: We would like to thank the participants described in this study. Funding for this study was provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188) . L.v.d.L. received the AR&D Travel Grant from Amsterdam UMC, which provided financial support for this work. T.S.B. was supported by the Netherlands Organisation for Scientific Research (ZonMw Vidi, grant 09150172110002) and acknowledges ongoing support from EpilepsieNL and CURE Epilepsy. N.M. and T.M. were supported by the Takeda Science Foundation, with additional support for T.M. from JSPS KAKENHI under grant nos. JP23K27568 and JP23K18278.; http://hdl.handle.net/10138/588621; 85209580203; 001364279900001

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    Academic Journal

    المصدر: Kleinendorst , L , Abawi , O , Vos , N , van der Valk , E S , Maas , S M , Morgan , A T , Hildebrand , M S , da Silva , J D , Florijn , R J , Lauffer , P , Visser , J A , van Rossum , E F C , van den Akker , E L T & van Haelst , M M 2024 , ' GNB1 and obesity : Evidence for a correlation between haploinsufficiency and syndromic obesity ' , Clinical obesity , vol. 14 , no. ....

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    المصدر: van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; . (2024). DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. (In Press). HGG advances, 5(3), p. 100289. Elsevier 10.1016/j.xhgg.2024.100289

    مصطلحات موضوعية: 610 Medicine & health

    وصف الملف: application/pdf

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    Academic Journal

    المساهمون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niel, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Bori, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

    Relation: info:eu-repo/semantics/altIdentifier/pmid/37120726; firstpage:100871; lastpage:100871; numberofpages:1; journal:GENETICS IN MEDICINE; https://hdl.handle.net/2318/1903993; https://www.gimjournal.org/article/S1098-3600(23)00884-5/pdf

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    Academic Journal

    المصدر: Krzyzewska , I M , Lauffer , P , Mul , A N , van der Laan , L , Yim , A Y F L , Cobben , J M , Niklinski , J , Chomczyk , M A , Smigiel , R , Mannens , M M A M & Henneman , P 2023 , ' Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD) ' , International Journal of Molecular Sciences , vol. 24 , no. 7 , 6601 . https://doi.org/10.3390/ijms24076601

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    المساهمون: Amsterdam University Medical Centers (Amsterdam UMC), Western University London, ON, Canada, Amsterdam UMC - Amsterdam University Medical Center, Emma Children’s Hospital, Centre for Human Genetics, University Hospitals Leuven, Catholic University of Leuven, The Greenwood Genetic Center, Radboud University Medical Center Nijmegen, Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca Murcia, Hospital Universitario La Paz, Odense University Hospital (OUH), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale CHU Nantes, Centre hospitalier universitaire de Nantes (CHU Nantes), Sorbonne Université (SU), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Jérôme Lejeune

    المصدر: ISSN: 1661-6596.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/36430143; hal-04098955; https://hal.science/hal-04098955; https://hal.science/hal-04098955/document; https://hal.science/hal-04098955/file/VanderLaan-2022.pdf; PUBMED: 36430143

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    Academic Journal

    المصدر: Hu , Y , Lauffer , P , Stewart , M , Codner , G , Mayerl , S , Heuer , H , Ng , L , Forrest , D , van Trotsenburg , P , Jongejan , A , Fliers , E , Hennekam , R & Boelen , A 2022 , ' An animal model for Pierpont syndrome : a mouse bearing the Tbl1xr1Y446C/Y446C mutation ' , Human Molecular Genetics , vol. 31 , no. 17 , pp. 2951-2963 . https://doi.org/10.1093/hmg/ddac086

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    Academic Journal

    المصدر: Lauffer , P , Boudin , E , Van Der Kaay , D C M , Koene , S , Van Haeringen , A , Van Tellingen , V , Van Hul , W , Prickett , T C R , Mortier , G , Espiner , E A & Van Duyvenvoorde , H A 2022 , ' Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature ' , Journal of the Endocrine Society , vol. 6 , no. 4 , bvac019 . https://doi.org/10.1210/jendso/bvac019

    وصف الملف: application/pdf

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    المصدر: Lauffer , P , Heinen , C A , Goorsenberg , A W M , Malekzadeh , A , Henneman , P , Heijboer , A C , Zwaveling-Soonawala , N , Boelen , A & Paul van Trotsenburg , A S 2024 , ' Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval : A Systematic Review and Meta-Analysis of Individual Participant Data ' , Thyroid , vol. 34 , no. 5 , pp. 559-565 . https://doi.org/10.1089/thy.2023.0562

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