المؤلفون: Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell

المصدر: BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: 2D photography, Clinical genetics, Computer vision, Computational biology, Dysmorphology, Facial gestalt, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12896-017-0410-1; https://doaj.org/toc/1472-6750

URL الوصول: https://doaj.org/article/f41c018183714148aa26ab2316eab2a5

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

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9193b503817104ea8baf69601988201
https://pubmed.ncbi.nlm.nih.gov/36446895

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
Neurology

مصطلحات 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

المؤلفون: Ingrid E. Scheffer, Jennifer L. Johnson, Hyung-Goo Kim, Michael S. Hildebrand, Ping Jun Zhu, Penelope E. Bonnen, Amanda Brignell, Christine Beeton, Victoria E. Jackson, Abhisek Bhattacharya, N. Tony Eissa, Urwah Nawaz, Yuwei Liu, Redwan Huq, Thomas S. Scerri, Loredana Stoica, Melanie Bahlo, Bo T. Porse, Renee Carroll, Jozef Gecz, Matthew Coleman, Usha Kini, Deepti Domingo, Ola Larsson, Anne Baxter, David J. Amor, Lachlan A. Jolly, Shelly A. Buffington, Mauro Costa-Mattioli, Ruth O Braden, Angela T Morgan

المصدر: Johnson, J L, Stoica, L, Liu, Y, Zhu, P J, Bhattacharya, A, Buffington, S, Huq, R, Eissa, N T, Larsson, O, Porse, B T, Domingo, D, Nawaz, U, Carroll, R, Jolly, L, Scerri, T S, Kim, H-G, Brignell, A, Coleman, M J, Braden, R, Kini, U, Jackson, V, Baxter, A, Bahlo, M, Scheffer, I E, Amor, D J, Hildebrand, M S, Bonnen, P E, Beeton, C, Gecz, J, Morgan, A T & Costa-Mattioli, M 2019, ' Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response ', Neuron, vol. 104, no. 4, pp. 665-679 . https://doi.org/10.1016/j.neuron.2019.08.027
Neuron

مصطلحات موضوعية: 0301 basic medicine, Male, Nonsense-mediated decay, autism, Inflammation, speech disorder, immune response, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Research Support, N.I.H., Extramural, Memory, Intellectual disability, medicine, Journal Article, Animals, Humans, Learning, Language Development Disorders, RNA, Messenger, Child, Mice, Knockout, mRNA quality control, business.industry, General Neuroscience, Research Support, Non-U.S. Gov't, RNA-Binding Proteins, Long-term potentiation, medicine.disease, 3. Good health, Nonsense Mediated mRNA Decay, 030104 developmental biology, Phenotype, Autism spectrum disorder, Neurodevelopmental Disorders, Synaptic plasticity, Forebrain, Autism, Drosophila, Female, medicine.symptom, business, Carrier Proteins, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad35e7f7e3352d68951cef438e476e08
https://pubmed.ncbi.nlm.nih.gov/31751540

المؤلفون: Sheridan O'Donnell, Bert B.A. de Vries, John Attia, Han G. Brunner, Brian C. Lovell, Carlos Riveros, Tjitske Kleefstra, Steve Brain, Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, David A. Koolen, Seshika Ratwatte, Anna Hackett, Susan M. White

المساهمون: MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: FHML non-thematic output

المصدر: BMC Biotechnology, 17
BMC Biotechnology
BMC Biotechnology, 17:90. BioMed Central Ltd
BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Databases, Factual, Intellectual disability, computer.software_genre, PHENOTYPE, Computational biology, 2D photography, Image Processing, Computer-Assisted, Photography, Syndromic, DYSMORPHIC FACES, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Dysmorphology, Syndrome, Phenotyping, Medical genetics, Female, SET, Natural language processing, Algorithms, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Biotechnology, Research Article, Adult, Matching (statistics), medicine.medical_specialty, GENETICS, lcsh:Biotechnology, Biology, DIAGNOSIS, DNA sequencing, CLASSIFICATION, Congenital Abnormalities, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, lcsh:TP248.13-248.65, medicine, Humans, Clinical genetics, Set (psychology), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Facial gestalt, RECOGNITION, Facies, medicine.disease, Developmental disorder, 030104 developmental biology, DISCOVERY, Face, Gestalt psychology, MORPHOLOGY, Computer vision, Artificial intelligence, business, Kabuki syndrome, computer

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f76865b0c11721afc9c84cd05518d747
http://hdl.handle.net/2066/181608

المؤلفون: Peter Westervelt, Thomas B. Shea, Luis Isola, Asad Bashey, Lee Anne Baxter-Lowe, Jeffrey L. Johnson, Kouros Owzar, John M. McCarty, Charles A. Linker, Sherif S. Farag, Michael Kelly

المصدر: Biology of Blood and Marrow Transplantation. 17:1395-1403

مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, Lymphoma, B-Cell, Transplantation Conditioning, Allogeneic transplantation, Cyclophosphamide, Chronic lymphocytic leukemia, medicine.medical_treatment, Antineoplastic Agents, Hematopoietic stem cell transplantation, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Leukemia, B-Cell, medicine, Humans, Transplantation, Homologous, Nonmyeloablative, Prolymphocytic leukemia, Survival rate, Aged, Allo transplantation, Transplantation, Dose-Response Relationship, Drug, business.industry, Hematopoietic Stem Cell Transplantation, Chemotherapeutic approches, Hematology, Middle Aged, medicine.disease, 3. Good health, Surgery, Survival Rate, Treatment Outcome, 030220 oncology & carcinogenesis, Female, business, Vidarabine Phosphate, 030215 immunology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e71c8bcf489a7ef5948eeed702fb4cc
https://doi.org/10.1016/j.bbmt.2011.01.016

المؤلفون: Fiona J. Rowe, Claire Howard, Lesley-Anne Baxter

المصدر: Scopus-Elsevier

مصطلحات موضوعية: medicine.medical_specialty, Evidence-Based Medicine, Rehabilitation, business.industry, medicine.medical_treatment, media_common.quotation_subject, Visual impairment, Stroke Rehabilitation, Alternative medicine, MEDLINE, General Medicine, medicine.disease, Physical medicine and rehabilitation, Excellence, Practice Guidelines as Topic, medicine, Humans, Level evidence, medicine.symptom, business, Stroke, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a556e6e3f8dda57cad32a6cbbc02f99
https://doi.org/10.1136/bmj.f4408