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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
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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
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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
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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
Relation: https://doaj.org/toc/2041-1723
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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
Relation: https://doaj.org/toc/2324-9269
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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
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7
المؤلفون: Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz‐Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne‐Marie Guerrot, Lance Rodan, Bert B. A. de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, Maria Palomares‐Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic‐Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller‐Ramey, Teresa Santiago‐Sim, Rhonda E. Schnur, David A. Sweetser, Nina B. Gold
المصدر: American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Judith Bluvstein, Suneeta Madan-Khetarpal, Daniel Groepper, Theodore Sheehan, Michael J. Lyons, Louise Bier, Julie Fleischer, Annapurna Poduri, Lynn Pais, Pascal Joset, Elena Infante, Evan H. Baugh, David Goldstein, Tristan T. Sands, Katharina Steindl, Pim Suwannarat, Cyril Mignot, Boris Keren, Matthew J. Ferber, Laura Schultz-Rogers, Natalie Lippa, Linda Hasadsri, Vinodh Narayanan, Maureen S. Mulhern, Alejandra Vasquez, Claudia A. L. Ruivenkamp, Marleen Simon, Susan M. White, Vimla Aggarwal, Eric W. Klee, Kristine K. Bachman, Lindsay C. Burrage, Caroline Nava, Nicholas Stong, Neil A. Hanchard, Josephine S.C. Chong, Anita Rauch, Renee Bend, Erin L. Heinzen, Sulagna Kushary, Marije Koopmans, Marissa S. Ellingson, Keri Ramsey, Raymond Yeh, Michelle E. Ernst, Ellen van Binsbergen, Sarah S. Barnett, Amanda Thomas, Kristin G. Monaghan, Eva H. Brilstra, Magalie S. Leduc, Weimin Bi, Jennifer A. Lee, Cigdem I. Akman, Sophie Mathieu, Andrea H. Seeley, Grazia M. S. Mancini
المساهمون: Clinical Genetics
المصدر: Epilepsia
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEYمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, CK2, Developmental Disabilities, Epilepsies, Myoclonic, Status epilepticus, casein kinase II, Article, MSNE, 03 medical and health sciences, Broad spectrum, Epilepsy, Young Adult, 0302 clinical medicine, Status Epilepticus, Intellectual Disability, Intellectual disability, medicine, Humans, Exome, Generalized epilepsy, Age of Onset, generalized epilepsy, Child, Exome sequencing, business.industry, Genetic Variation, Infant, medicine.disease, Young age, 030104 developmental biology, myoclonic status epilepticus, Phenotype, Neurology, Child, Preschool, Mutation, myoclonic seizures, Epilepsy, Generalized, Female, Neurology (clinical), medicine.symptom, Epilepsy severity, business, 030217 neurology & neurosurgery
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9
المؤلفون: Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
المصدر: Genetics in Medicine. 25:100359
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Multivariate analysis, business.industry, Translational research, Genomics, Disease, 030105 genetics & heredity, Omics, Undiagnosed Diseases, Translational Research, Biomedical, 03 medical and health sciences, 030104 developmental biology, Phenotype, Exome Sequencing, Medicine, Humans, Exome, Personalized medicine, Genetic Testing, business, Exome sequencing, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04a
https://doi.org/10.1016/j.gim.2022.12.006 -
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المؤلفون: Aidin Foroutan, Bekim Sadikovic, Celeste Panteghini, Simone Pizzi, Evelina Miele, Federica Invernizzi, Maria Iascone, Paolo Prontera, Lucia Pedace, Vincenzo Leuzzi, Maria Francesca Bedeschi, Giovanna Zorzi, Marco Tartaglia, Rory J. Olson, Chiara Reale, Marcello Niceta, Laura Schultz-Rogers, Paola Soliveri, Andrea Ciolfi, Matteo Garibaldi, Alessandro Capuano, Emanuele Agolini, Ralitza H. Gavrilova, Barbara Garavaglia, Marco Andreani, Serena Galosi, Lorena Travaglini
المصدر: Paediatrics Publications
Clinical Epigeneticsمصطلحات موضوعية: Adult, Male, Adolescent, Biology, Epigenesis, Genetic, Frameshift mutation, Cohort Studies, Genetics, medicine, Humans, Epigenetics, Child, Episignature, Molecular Biology, Genetics (clinical), Dystonia, DNA methylation, Genetic heterogeneity, Dystonia 28, KMT2B, Research, Age Factors, Infant, Newborn, Genetic Variation, Infant, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Human genetics, Phenotype, Dystonic Disorders, Child, Preschool, Mutation, Female, Hypermethylation Profile, Haploinsufficiency, Developmental Biology
وصف الملف: application/pdf