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1Academic Journal
المؤلفون: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
مصطلحات موضوعية: Australian Genomics, Cardiovascular genetic disorders, Genome sequencing, Specialized multidisciplinary care, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: deep brain stimulation, dystonia, KMT2B, splicing, synonymous, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3Academic Journal
المؤلفون: Michel Tchan, Kishore Kumar, Susan Tomlinson, Sophie Devery, Stephen Tisch, Alison McLean, Renee Smyth, Kathy Wu
المصدر: BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2632-6140
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4
المؤلفون: Alison McLean, Michel Tchan, Sophie Devery, Renee Smyth, Rupendra Shrestha, Kishore R. Kumar, Susan Tomlinson, Stephen Tisch, Kathy H. C. Wu
المصدر: Internal Medicine Journal.
مصطلحات موضوعية: Internal Medicine
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5
المؤلفون: Sophie Devery, Renata Libianto, Kathy H C Wu, John A. Eisman
المصدر: Bone. 123:18-22
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, Karyotype, Acrodysostosis, 030209 endocrinology & metabolism, Short stature, 03 medical and health sciences, 0302 clinical medicine, Skeletal disorder, Intellectual Disability, Humans, Medicine, Abnormalities, Multiple, Bone Diseases, Developmental, Whole Genome Sequencing, Tooth Abnormalities, business.industry, Brachydactyly, Facies, KBG SYNDROME, Microdeletion syndrome, medicine.disease, Repressor Proteins, 030104 developmental biology, Mutation, Female, Pseudopseudohypoparathyroidism, medicine.symptom, business
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6
المؤلفون: Kishore Kumar, Alison McLean, Susan Tomlinson, Kathy H C Wu, Renee Smyth, Stephen Tisch, Sophie Devery, Michel Tchan
المصدر: BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)
مصطلحات موضوعية: Neurogenomics, Pediatrics, medicine.medical_specialty, Referral, medicine.diagnostic_test, business.industry, Gold standard, Attendance, Neurosciences. Biological psychiatry. Neuropsychiatry, Audit, medicine, Medical diagnosis, business, Psychosocial, RC321-571, Genetic testing
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7
المؤلفون: Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson
المساهمون: Austin, Rachel, Quinn, Michael CJ, Afoakwah, Clifford, Metke-Jimenez, Alejandro, Jackson, Matilda R, McGaughran, Julie
مصطلحات موضوعية: Clinical audit, medicine.medical_specialty, Heart Diseases, Heart disease, Cardiomyopathy, audit, Telehealth, Audit, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Health care, medicine, Humans, 030212 general & internal medicine, cardiovascular genetics, Likely pathogenic, Clinical Audit, business.industry, Australia, Baseline data, medicine.disease, Telemedicine, Emergency medicine, genomic sequencing, Queensland, Cardiology and Cardiovascular Medicine, business
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8
المؤلفون: Iram Hussain, Frank Vuitch, Robert A. Hegele, Howard B. A. Baum, Jerry R. Greenfield, Barbara Gisella Carranza-Leon, Kathy H C Wu, MacRae F. Linton, Anil K. Agarwal, Ruilin Raelene Jin, Chao Xing, Sophie Devery, Junko Oshima, Abhimanyu Garg, Débora Rossi Precioso
المصدر: Journal of the Endocrine Society. 4
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Progeria, business.industry, Endocrinology, Diabetes and Metabolism, Partial Lipodystrophy, Cardiomyopathy, 030209 endocrinology & metabolism, medicine.disease, Nephropathy, LMNA, Mandibuloacral dysplasia, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Focal segmental glomerulosclerosis, medicine, Lipodystrophy, business
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9
المؤلفون: Danqing Zhu, Sophie Devery, Melina Ellis, Kathy H C Wu, Susan E. Tomlinson, Phillip D. Cremer, Andrea Cortese, Natalia Dominik, Penelope J Spring, Henry Houlden, Michel Tchan, Simon Hawke, Stephanie Efthymiou, Marina L. Kennerson, Karl Ng, Stephen Tisch, Mary M. Reilly, Kishore R. Kumar, Garth A. Nicholson, Marion Stoll
المصدر: Brain. 143:e82-e82
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Sensory neuropathy, medicine, Neurology (clinical), Sjögren syndrome, medicine.disease, business, Dermatology
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10
المؤلفون: Graeme C.M. Black, J Lowndes, Ryan Combs, Sophie Devery, Simon C Ramsden, Susan M. Downes, Georgina Hall, Katherine Payne, Marion McAllister, Anthony T. Moore
المصدر: British Journal of Ophthalmology. 97:1057-1061
مصطلحات موضوعية: Male, medicine.medical_specialty, Service delivery framework, media_common.quotation_subject, Disease, Cellular and Molecular Neuroscience, Surveys and Questionnaires, Perception, Retinal Dystrophies, Health care, medicine, Humans, Genetic Testing, Psychiatry, Quality of Health Care, media_common, Service (business), Genetic Services, business.industry, Patient Preference, Sensory Systems, Ophthalmology, Patient Satisfaction, Family medicine, Female, Health Services Research, Thematic analysis, business, Psychosocial, Welfare
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11
المؤلفون: Eva Lenassi, Panagiotis I. Sergouniotis, Alice E. Davidson, Sophie Devery, Andrew R. Webster, Anthony T. Moore
المصدر: Ophthalmology. 119:596-605
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Posterior pole, Mutation, Missense, Visual Acuity, Retina, Ornithine aminotransferase deficiency, Contrast Sensitivity, Ophthalmoscopy, chemistry.chemical_compound, medicine, Gyrate Atrophy, Humans, RNA, Messenger, Fluorescein Angiography, Child, Outer nuclear layer, Retrospective Studies, Ornithine-Oxo-Acid Transaminase, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Fundus photography, Computational Biology, Retinal, Middle Aged, medicine.disease, Ophthalmology, Phenotype, medicine.anatomical_structure, chemistry, Visual Field Tests, Female, Visual Fields, business, Microperimetry, Tomography, Optical Coherence
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12
المؤلفون: Sophie Devery, Graham E. Holder, Anthony G. Robson, Panagiotis I. Sergouniotis, Anthony T. Moore, Andrew R. Webster, Zheng Li
المصدر: Acta Ophthalmologica. 90:e192-e197
مصطلحات موضوعية: Adult, Male, Retinal Bipolar Cells, Refractive error, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, Visual Acuity, Dark Adaptation, Nystagmus, Biology, Receptors, Metabotropic Glutamate, Night Blindness, Ophthalmology, Electroretinography, Myopia, medicine, Humans, Child, Vision, Ocular, Aged, Congenital stationary night blindness, Retina, medicine.diagnostic_test, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Exons, General Medicine, Middle Aged, medicine.disease, Introns, eye diseases, Phenotype, medicine.anatomical_structure, Mutation, Maculopathy, Female, sense organs, medicine.symptom, Erg, Photic Stimulation
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13
المؤلفون: Antonella Mendola, Glen Brice, Ines Martinez-Corral, Bart Loeys, Richard C. Trembath, Martin G. Bialer, Sophie Devery, Stefan Schulte-Merker, Peter S. Mortimer, Andreas van Impel, Alexandros Onoufriadis, Amihood Singer, Miikka Vikkula, Michael A. Simpson, Fiona Connell, Pradeep Vasudevan, Arash Ghalamkarpour, Steve Jeffery, Jules G. Leroy, Anthony T. Moore, Meriel McEntagart, Taija Makinen, Pia Ostergaard, Lut Van Laer, Sahar Mansour, Oliver Quarrell
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: American Journal of Human Genetics, 90, 2, pp. 356-62
American Journal of Human Genetics, 90(2), 356-362. Cell Press
The American journal of human genetics
American Journal of Human Genetics, 90, 356-62مصطلحات موضوعية: Male, Heterozygote, Microcephaly, medicine.medical_specialty, Kinesins, medicine.disease_cause, Congenital Abnormalities, Congenital lymphedema, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], symbols.namesake, Report, Internal medicine, hemic and lymphatic diseases, Genetics, medicine, Humans, Missense mutation, Genetics(clinical), Abnormalities, Multiple, Exome, Lymphedema, Genetics (clinical), Sanger sequencing, Mutation, Cholestasis, business.industry, Facies, medicine.disease, humanities, Pedigree, Phenotype, Endocrinology, symbols, Retinal dysplasia, Female, Retinal Dysplasia, Human medicine, business
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; pdf
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14
المؤلفون: Jessica C, Gardner, Tom R, Webb, Naheed, Kanuga, Anthony G, Robson, Graham E, Holder, Andrew, Stockman, Caterina, Ripamonti, Neil D, Ebenezer, Olufunmilola, Ogun, Sophie, Devery, Genevieve A, Wright, Eamonn R, Maher, Michael E, Cheetham, Anthony T, Moore, Michel, Michaelides, Alison J, Hardcastle
المصدر: Advances in experimental medicine and biology. 723
مصطلحات موضوعية: Adult, Aged, 80 and over, Family Health, Male, Chromosomes, Human, X, Adolescent, Mutation, Missense, Rod Opsins, Color Vision Defects, Middle Aged, Young Adult, Phenotype, Retinal Dystrophies, Retinal Cone Photoreceptor Cells, Humans, Aged
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15
المؤلفون: Sophie Devery, Michel Michaelides, Mala Subash, Adnan Tufail, Genevieve A. Wright, Anthony T. Moore, Andrew R. Webster, Bishwanath Pal, Graham E. Holder, Anthony G. Robson, Tryfonas Rotsos
المصدر: The British journal of ophthalmology. 96(5)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Bestrophins, genetic structures, DNA Mutational Analysis, Peripherins, Visual Acuity, Nerve Tissue Proteins, Polymerase Chain Reaction, Cellular and Molecular Neuroscience, Intermediate Filament Proteins, Chloride Channels, Ophthalmology, medicine, Electroretinography, Humans, Fluorescein Angiography, Eye Proteins, Aged, Retrospective Studies, Membrane Glycoproteins, medicine.diagnostic_test, business.industry, Fundus photography, Macular dystrophy, Middle Aged, medicine.disease, Fluorescein angiography, eye diseases, Sensory Systems, Vitelliform Macular Dystrophy, Electrooculography, Phenotype, Mutation, Maculopathy, Female, business, Tomography, Optical Coherence, Case series, Retinopathy
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16
المؤلفون: Michael E. Cheetham, Michel Michaelides, Caterina Ripamonti, Neil D. Ebenezer, Alison J. Hardcastle, Jessica C. Gardner, Olufunmilola A. Ogun, Tom R. Webb, Naheed Kanuga, Anthony T. Moore, Eamonn R. Maher, Graham E. Holder, Anthony G. Robson, Genevieve A. Wright, Andrew Stockman, Sophie Devery
المصدر: Retinal Degenerative Diseases ISBN: 9781461406303
مصطلحات موضوعية: Retinal degeneration, Genetics, Opsin, genetic structures, Biology, medicine.disease, Retinal Cone Photoreceptor Cells, eye diseases, Exon, Cone dystrophy, OPN1LW, OPN1MW, medicine, Missense mutation, sense organs
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17
المؤلفون: Sophie Devery, Genevieve A. Wright, Anthony T. Moore, Andrew R. Webster, Donna S. Mackay, Arundhati Dev Borman, Panagiotis I. Sergouniotis, Zheng Li
المصدر: Investigative ophthalmologyvisual science. 52(3)
مصطلحات موضوعية: Proband, Retinal degeneration, Male, Genotype, DNA Mutational Analysis, Leber Congenital Amaurosis, Genes, Recessive, Biology, Compound heterozygosity, Nucleic Acid Denaturation, Polymerase Chain Reaction, Loss of heterozygosity, Retinitis pigmentosa, medicine, Missense mutation, Humans, Allele, Eye Proteins, Genetics, DNA, Sequence Analysis, DNA, medicine.disease, Mutation, Disease Progression, Female, Retinitis Pigmentosa
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18
المؤلفون: Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Alison J. Hardcastle, Caterina Ripamonti, Andrew Stockman, Sophie Devery, Olufunmilola A. Ogun, Michael E. Cheetham, Michel Michaelides, Genevieve A. Wright, Eamonn R. Maher, Tom R. Webb, Neil D. Ebenezer, Naheed Kanuga, Jessica C. Gardner
المصدر: American journal of human genetics. 87(1)
مصطلحات موضوعية: Adult, Male, Opsin, genetic structures, Adolescent, Genetic Linkage, Molecular Sequence Data, Mutation, Missense, Biology, Retinal Cone Photoreceptor Cells, Protein Structure, Secondary, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Cone dystrophy, Retinal Diseases, Retinitis pigmentosa, Genetics, medicine, OPN1MW, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Aged, Aged, 80 and over, 0303 health sciences, Chromosomes, Human, X, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Cone Opsins, eye diseases, Pedigree, Haplotypes, OPN1LW, Genetic Loci, 030221 ophthalmology & optometry, Female, sense organs, Lod Score
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المؤلفون: Anthony T. Moore, Donna S. Mackay, Andrew R. Webster, Michel Michaelides, Zheng Li, Genevieve A. Wright, Graham E. Holder, Anthony G. Robson, Sophie Devery, Panagiotis I. Sergouniotis
مصطلحات موضوعية: Male, Heterozygote, genetic structures, Molecular Sequence Data, TRPM Cation Channels, Biology, medicine.disease_cause, Cohort Studies, Exon, Consanguinity, Night Blindness, Retinal Rod Photoreceptor Cells, Report, medicine, Genetics, Electroretinography, Humans, Genetics(clinical), Amino Acid Sequence, Gene, Genetics (clinical), TRPM1, Loss function, Congenital stationary night blindness, Retina, Mutation, Chromosomes, Human, Pair 15, medicine.diagnostic_test, Base Sequence, Homozygote, Chromosome Mapping, eye diseases, Pedigree, medicine.anatomical_structure, Case-Control Studies, Female, sense organs
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20
المؤلفون: Richard Bell, Nikolina Andrieska, Ingrid Winship, Margaret Smith, Sophie Devery, Emanouil Sigalas, Susan Fawcett
المصدر: Familial cancer. 7(2)
مصطلحات موضوعية: Adult, Cancer Research, Heterozygote, endocrine system diseases, Genotype, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Biology, Polymerase Chain Reaction, Risk Assessment, Germline mutation, Breast cancer, Risk Factors, Genetics, medicine, Humans, skin and connective tissue diseases, Genetics (clinical), Aged, BRCA2 Protein, Splice site mutation, BRCA1 Protein, Middle Aged, medicine.disease, Human genetics, Founder Effect, Pedigree, Phenotype, Oncology, Jews, Population Surveillance, Mutation (genetic algorithm), Mutation, Female, Founder effect