检索结果 - Nils Koelling

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  1. 1
    Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

    Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes 由 Geoffrey J. Maher, H. Ralph, Zhihao Ding, Nils Koelling, Hana Mlčochová, Eleni Giannoulatou, Pawan Dhami, Dirk S. Paul, Stefan H. Stricker, Stephan Beck, Gil McVean, Andrew O.M. Wilkie, Anne Goriely

    出版 2018
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  2. 2
    Interpretable machine learning leverages proteomics to improve cardiovascular disease risk prediction and biomarker identification

    Interpretable machine learning leverages proteomics to improve cardiovascular disease risk prediction and biomarker identification 由 Héctor Climente-González, Min Oh, Urszula Chajewska, Roya Hosseini, Sudipto Mukherjee, Wei Gan, Matthew Traylor, Sile Hu, Ghazaleh Fatemifar, Jonas Ghouse, Paul Pangilinan Del Villar, Erik Vernet, Nils Koelling, Liang Du, Robin Abraham, Chuan Li, Joanna M. M. Howson

    出版 2025
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  3. 3
    The developing mouse coronal suture at single-cell resolution

    The developing mouse coronal suture at single-cell resolution 由 D’Juan T. Farmer, Hana Mlčochová, Yan Zhou, Nils Koelling, Guanlin Wang, Neil Ashley, Helena Bugacov, Hung-Jhen Chen, Riana K. Parvez, Kuo-Chang Tseng, Amy E. Merrill, Robert E. Maxson, Andrew O.M. Wilkie, J. Gage Crump, Stephen R.F. Twigg

    出版 2021
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  4. 4
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation 由 Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    出版 2020
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  5. 5
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation 由 Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    出版 2023
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  6. 6
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder 由 Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    出版 2018
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  7. 7
    Mapping the human genetic architecture of COVID-19

    Mapping the human genetic architecture of COVID-19 由 Mari Niemi, Juha Karjalainen, Rachel G. Liao, Benjamin M. Neale, Mark J. Daly, Andrea Ganna, Gita A. Pathak, Shea J. Andrews, Masahiro Kanai, Kumar Veerapen, Israel Fernández‐Cadenas, Eva C. Schulte, Pasquale Striano, M. Marttila, Camelia C. Minică, Eirini Marouli, Mohd Anisul Karim, Frank R. Wendt, Jeanne E. Savage, Laura Sloofman, Guillaume Butler‐Laporte, Han‐Na Kim, Stavroula Kanoni, Yukinori Okada, Jinyoung Byun, Younghun Han, Mohammed Jashim Uddin, George Davey Smith, Cristen J. Willer, Joseph D. Buxbaum, Juha Mehtonen, Hilary K. Finucane, Mattia Cordioli, Alicia R. Martin, Wei Zhou, Bogdan Paşaniuc, Hanna Julienne, Hugues Aschard, Huwenbo Shi, Loïc Yengo, Renato Polimanti, Maya Ghoussaini, Jeremy Schwartzentruber, Ian Dunham, Karolina Chwiałkowska, Margherita Francescatto, Amy Trankiem, Mary K. Balaconis, Lea K. Davis, Sulggi A. Lee, James R. Priest, Alessandra Renieri, Vijay G. Sankaran, David A. van Heel, Patrick Deelen, J. Brent Richards, Tomoko Nakanishi, Les Biesecker, V. Eric Kerchberger, J. Kenneth Baillie, Francesca Mari, Anna Bernasconi, J. Kenneth Baillie, Arif Canakoglu, Brooke N. Wolford, Annika Faucon, Atanu Kumar Dutta, Claudia Schurmann, Emi N. Harry, Ewan Birney, Huy Nguyen, Jamal Nasir, Mari Kaunisto, Matthew Solomonson, Nicole Dueker, Nirmal Vadgama, Sophie Limou, Souad Rahmouni, Hamdi Mbarek, Dima Darwish, Md Mesbah Uddin, Raquel Albertos, Jordi Pérez‐Tur, Ruolin Li, Lasse Folkersen, Ida Moltke, Nils Koelling, Alexander Teumer, Athanasios Kousathanas, Alicia Utrilla, Ricardo A. Verdugo, Ruth Zárate, Carolina Medina‐Gómez, David Gómez-Cabrero, Elena Carnero‐Montoro, Carmen L. Cadilla, Andrés Moreno‐Estrada, Adriana Garmendia, Leire Moya, Bahareh Sedaghati-khayat

    出版 2021
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