תוצאות חיפוש - Georgia Vasileiou
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Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 מאת Cornelia Kraus, Juliane Hoyer, Georgia Vasileiou, Marius Wunderle, Michael P. Lux, Peter A. Fasching, Mandy Krumbiegel, Steffen Uebe, Miriam S. Reuter, Matthias W. Beckmann, André Reis
יצא לאור 2016Artigo -
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Gender-based analysis of cortical thickness and structural connectivity in Parkinson’s disease מאת Santosh K. Yadav, Nagarajan Kathiresan, Suyash Mohan, Georgia Vasileiou, Anup Singh, Deepak Kaura, Elias R. Melhem, Rakesh K. Gupta, Ena Wang, Francesco M. Marincola, Arijitt Borthakur, Mohammad Haris
יצא לאור 2016Artigo -
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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability מאת Anne Gregor, Martin Oti, Evelyn N. Kouwenhoven, Juliane Hoyer, Heinrich Sticht, Arif B. Ekici, Susanne Kjærgaard, Anita Rauch, H.G. Stunnenberg, Steffen Uebe, Georgia Vasileiou, André Reis, Huiqing Zhou, Christiane Zweier
יצא לאור 2013Artigo -
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Risk, Prediction and Prevention of Hereditary Breast Cancer – Large-Scale Genomic Studies in Times of Big and Smart Data מאת Marius Wunderle, Gregor Olmes, Naiba Nabieva, Lothar Häberle, Sebastian M. Jud, Alexander Hein, Claudia Rauh, Carolin C. Hack, Ramona Erber, Arif B. Ekici, Juliane Hoyer, Georgia Vasileiou, Cornelia Kraus, André Reis, Arndt Hartmann, Rüdiger Schulz‐Wendtland, Michael P. Lux, Matthias Beckmann, Peter A. Fasching
יצא לאור 2018Artigo -
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome מאת Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B. Ekici, Marion Gérard, Nuria C. Bramswig, Beate Albrecht, Jill Clayton‐Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T. Cho, Christian T. Thiel, Hermann‐Josef Lüdecke, Tim M. Strom, Eduardo Calpena, Andrew O.M. Wilkie, Dagmar Wieczorek, Felix B. Engel, André Reis
יצא לאור 2018Artigo -
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<i>TRIM28</i> haploinsufficiency predisposes to Wilms tumor מאת Illja J. Diets, Juliane Hoyer, Arif B. Ekici, Bernt Popp, Nicoline Hoogerbrugge, Simon V. van Reijmersdal, Rajith Bhaskaran, Michel V. Hadjihannas, Georgia Vasileiou, Christian T. Thiel, Didem Seven, Steffen Uebe, Denisa Ilenčíková, Esmé Waanders, Annelies M. C. Mavinkurve‐Groothuis, Nel Roeleveld, Ronald R. de Krijger, Jenny Wegert, Norbert Graf, Christian Vokuhl, Abbas Agaimy, Manfred Gessler, André Reis, Roland P. Kuiper, Marjolijn C.J. Jongmans, Markus Metzler
יצא לאור 2019Artigo -
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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder מאת Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné
יצא לאור 2022Artigo -
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum מאת Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horváth, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege Marie Schnelle, Siren Berland, Evelien Zonneveld‐Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Schrier Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julián A. Martínez-Agosto, Outi Kuismin, Mitja Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana Johnson, Katja Venborg Pedersen, Lone Walentin Laulund, Sally Ann Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
יצא לאור 2019Artigo -
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 מאת Maimuna Sali Paul, Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa A. Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela Pojomovsky McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne‐Sophie Denommé‐Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, G. Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T. Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather C. Mefford, Maria T. Acosta, Margaret P Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo
יצא לאור 2024Artigo
כלי חיפוש:
נושאים קשורים
Biology
Gene
Genetics
Medicine
Autism
Neurodevelopmental disorder
Phenotype
Psychiatry
Breast cancer
CTCF
Cancer
Enhancer
Genetic testing
Internal medicine
Ovarian cancer
Transcription factor
Anatomy
Audiology
Autism spectrum disorder
Beta-catenin
Bioinformatics
CHEK2
Cancer research
Catenin
Cell biology
Chromatin
Chromatin remodeling
Coffin
Colorectal cancer
Computational biology