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1دورية أكاديمية
المؤلفون: Damien F Hudson, David J Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis
المصدر: PLoS Genetics, Vol 12, Iss 12, p e1006483 (2016)
وصف الملف: electronic resource
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المؤلفون: Laurence A. Galea, Michael S. Hildebrand, Amber Boys, Christopher Joy, Justin Chee, Gordon White
المصدر: Pathology. 55:143-146
مصطلحات موضوعية: Pathology and Forensic Medicine
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المؤلفون: Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
المصدر: Molecular Psychiatry, 28, 4, pp. 1664-1666
Molecular Psychiatry, 28, 1664-1666مصطلحات موضوعية: Neuroinformatics, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Biophysics, Molecular Biology
وصف الملف: application/pdf
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المؤلفون: Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
المصدر: Molecular Psychiatry, 28, 4, pp. 1647-1663
Molecular Psychiatry. Advance online publication
Molecular Psychiatry, 28, 1647-1663مصطلحات موضوعية: Neuroinformatics, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Biophysics, Molecular Biology
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
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المؤلفون: Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand
المصدر: Hum Mol Genet
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Hamartoma, Genetics, Humans, Original Article, Hedgehog Proteins, General Medicine, Magnetic Resonance Imaging, Molecular Biology, Ciliopathies, Hypothalamic Diseases, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c335523fad181bfe5a044bcac20cd8e
https://doi.org/10.1093/hmg/ddab366 -
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المؤلفون: Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1 -
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المؤلفون: David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
المصدر: European journal of human genetics : EJHG.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
المصدر: Human mutationREFERENCES. 43(12)
مصطلحات موضوعية: Tuberous Sclerosis, Mosaicism, Tumor Suppressor Proteins, Tuberous Sclerosis Complex 2 Protein, Mutation, Genetics, Humans, Genetics (clinical), Tuberous Sclerosis Complex 1 Protein
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المؤلفون: Sheena Reilly, Kerryn Saunders, Frédérique Liégeois, David Coman, Michael S. Hildebrand, Jozef Gecz, Himanshu Goel, Martin B. Delatycki, Melanie Bahlo, Ingrid E. Scheffer, Anne Baxter, Samantha J. Turner, Kristin A Rigbye, Michael Hayman, Alan Connelly, Sarah Barton, Matthew Coleman, Georgia A Paxton, Michael C Fahey, Simon E. Fisher, Ruth O Braden, David J. Amor, Thomas S. Scerri, Olivia van Reyk, Victoria E. Jackson, Amber Boys, Noni M Davis, Richard D. Webster, Bronwyn Parry-Fielder, Angela T Morgan, Alan Ma
المصدر: Neurology, 94, 20, pp. e2148-e2167
Neurology, 94, e2148-e2167
Neurologyمصطلحات موضوعية: Male, Neuroinformatics, 0301 basic medicine, Proband, Adolescent, Apraxias, Locus (genetics), GTP-Binding Protein alpha Subunits, Gi-Go, 030105 genetics & heredity, Biology, Speech Disorders, 03 medical and health sciences, medicine, Humans, Speech, Child, Exome, Gene, Genetic Association Studies, Genetics, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Child, Preschool, Childhood apraxia of speech, Female, Speech disorder, Human genome, Neurology (clinical), medicine.symptom, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b96302fc633b11c7d4f78145b96250
https://doi.org/10.1212/wnl.0000000000009441 -
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المؤلفون: Mark F. Bennett, Michael S. Hildebrand, Sayaka Kayumi, Mark A. Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J. Henry, John A. Damiano, Amber Boys, Jozef Gécz, Melanie Bahlo, Ingrid E. Scheffer, Samuel F. Berkovic
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: Neurology (clinical), Article, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bbbddd570cd9dcf54fd7c0a98e4d56d
https://doi.org/10.1212/nxg.0000000000000652