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1دورية أكاديمية
المؤلفون: Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Melissa Hill, Sian Ellard, Naomi Fulop, Jane Fisher, Mark Kroese, Marian Knight, Kerry Leeson-Beevers, Jean Ledger, Dominic McMullan, Alec McEwan, Stephen Morris, Rhiannon Mellis, Dagmar Tapon, Michael Parker, Laura Blackburn, Holly Walton, Emma Baple, Caroline Lafarge, Asya Choudry, Emma Smith, Michelle Peter, Hannah McInnes-Dean, Lauren Roberts, Rema Ramakrishnan, Sarah L. Wynn, Beverly Searle, Lyn S. Chitty, Wing Han Wu
المصدر: NIHR Open Research, Vol 2 (2022)
مصطلحات موضوعية: prenatal exome sequencing, genomic medicine service, ethics, counselling, study protocol, mixed methods, eng, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Malgorzata Drozniewska, Mark D. Kilby, Julie Vogt, Fiona Togneri, Elizabeth Quinlan‐Jones, Lisa Reali, Stephanie Allen, Dominic McMullan
المصدر: Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
مصطلحات موضوعية: microarrays, Nager syndrome, prenatal diagnosis, SF3B4 gene, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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4
المؤلفون: Helene Poquet, Laurence Faivre, Salima El Chehadeh, Jenny Morton, Dominic McMullan, Susan Hamilton, Himanshu Goel, Bertrand Isidor, Cedric Le Caignec, Joris Andrieux, Bruno Delobel, Eva Pipiras, Anne Claude Tabet, Andree Delahaye, Loic Depontual, Mathilde Lefebvre, Caroline Jacquot, Alice Masurel, Frederic Huet, Jean Michel Pinoit, Vincent Meille, Maud Benetti, Eddy Ponavoy, Jean Christophe Chauvet Gelinier, Benoit Trojak, Bernard Bonin, Christine Juif, Anne Collinet de la Salle, Christel Thauvin Robinet, Nathalie Lagarde, Celine Henry, Nathalie Marle, Patrick Callier, Anne Laure Mosca Boidron
المصدر: Autism-Open Access.
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Candidate gene, medicine.disease, Glutamatergic postsynaptic density, Penetrance, 03 medical and health sciences, 030104 developmental biology, Autism spectrum disorder, mental disorders, Intellectual disability, medicine, General Earth and Planetary Sciences, Autism, Specific Learning Disorder, Copy-number variation, Psychiatry, Psychology, General Environmental Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cd68bd1046d9a49b625d192d88fa0071
https://doi.org/10.4172/2165-7890.1000197 -
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المؤلفون: Elizabeth, Quinlan-Jones, Mark D, Kilby, Sheila, Greenfield, Michael, Parker, Dominic, McMullan, Matthew E, Hurles, Sarah C, Hillman
المصدر: Prenatal diagnosis. 36(10)
مصطلحات موضوعية: Male, Incidental Findings, Informed Consent, Time Factors, Attitude of Health Personnel, Genetics, Medical, Uncertainty, Genetic Counseling, Sequence Analysis, DNA, Focus Groups, United Kingdom, Obstetrics, Physicians, Prenatal Diagnosis, Humans, Exome, Female, Genetic Testing, Attitude to Health, Qualitative Research
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6
المؤلفون: Marie Anne Bründler, Dominic McMullan, Alison Ely, Suren G. Arul, Rachel M. Brown, Kim Neuling, Martin English, Annikka Weissferdt
المصدر: Pediatric and Developmental Pathology. 9:229-233
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Time Factors, Chromosomes, Human, Pair 22, medicine.medical_treatment, Biology, Disease-Free Survival, Translocation, Genetic, Pathology and Forensic Medicine, Neuroblastoma, Antineoplastic Combined Chemotherapy Protocols, Biopsy, medicine, Humans, Oncogene Fusion, Neuroectodermal Tumors, Primitive, Peripheral, Child, Cyclophosphamide, In Situ Hybridization, Fluorescence, Chemotherapy, medicine.diagnostic_test, Peripheral Primitive Neuroectodermal Tumor, Chromosomes, Human, Pair 11, Soft tissue, Cell Differentiation, General Medicine, medicine.disease, Abdominal mass, Vincristine, Karyotyping, FLI1, Pediatrics, Perinatology and Child Health, Dactinomycin, Female, Radiotherapy, Adjuvant, Sarcoma, medicine.symptom, Tomography, X-Ray Computed, Follow-Up Studies
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7
المؤلفون: Fiona J, Clark, Lisa, Freeman, Andrzej, Dzionek, Jürgen, Schmitz, Dominic, McMullan, Peter, Simpson, Joanne, Mason, Premini, Mahendra, Charles, Craddock, Mike, Griffiths, Paul A, Moss, Ronjon, Chakraverty
المصدر: Transplantation. 75(2)
مصطلحات موضوعية: Adult, Male, Adolescent, Antigens, CD19, Graft vs Host Disease, Cell Count, Dendritic Cells, HLA-DR Antigens, Middle Aged, Antigens, CD1, Chronic Disease, Humans, Female, Glycoproteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::de3ec9ec144a42f555a91c27ead8fea6
https://pubmed.ncbi.nlm.nih.gov/12548127 -
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المؤلفون: May Leong, Martin English, Dominic McMullan, Pramila Ramani
المصدر: Pediatric and Developmental Pathology. :1
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine, Pathology and Forensic Medicine