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1دورية أكاديمية
المؤلفون: Jeanine Ruggeri, Billie Carstens, Veronica McDaniel, Christine Henderson, Hala Nijmeh, Patricia Trevisan, Sudabeh Balakhani, Kimberly Harding, Aline Murakami-Walter, Alexandra Ohene-Mobley, Karen Swisshelm, Stephen Wicks, Laura Schultz-Rogers, Mary Haag
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101004- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442400150XTest; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Rory Olson, Alejandro Ferrer, Patrick Duffy, Filippo Pinto E Vairo, Laura Schultz-Rogers, Erica Macke, Stephanie Safgren, Joel Morales-Rosado, Gavin Oliver, Lisa Schimmenti, Eva Kahn, Myra Wick, Ralitza Gavrilova, Michael Meiners, David Rider, Megan Williams, Eric Klee
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100703- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423007033Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديميةNovel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
المؤلفون: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: TRIO gene, Autism, Macrocephaly, Microcephaly, Cutis aplasia, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-020-01159-yTest; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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5دورية أكاديمية
المؤلفون: Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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6دورية أكاديمية
المؤلفون: Laura Schultz-Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, Mrinal M. Patnaik
المصدر: Haematologica, Vol 106, Iss 4 (2020)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
العلاقة: https://haematologica.org/article/view/9804Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test
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7دورية أكاديمية
المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)
مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28
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8دورية أكاديمية
المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)
مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28
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9دورية أكاديمية
المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)
مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28
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10دورية أكاديمية
المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)
مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28