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1دورية أكاديمية
المؤلفون: Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna, Selina McHarg, Nadhim Bayatti, İlhan E. Acar, Carel B. Hoyng, Sascha Fauser, Anthony T. Moore, John R. W. Yates, Eiko K. de Jong, B. Paul Morgan, Anneke I. den Hollander, Paul N. Bishop, Simon J. Clark
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2
المؤلفون: Ayla, Humphrey, Cathy, MacLean, George B, Ploubidis, Yael, Granader, Michelle, Clifford, Maisy, Haslop, Brian G R, Neville, John R W, Yates, Patrick F, Bolton, C H, Shepherd
المصدر: Epilepsia. 55:108-116
مصطلحات موضوعية: Male, Longitudinal study, Pediatrics, medicine.medical_specialty, Intellectual development, Dose dependence, Neuropsychological Tests, Tuberous sclerosis, Epilepsy, Child Development, Tuberous Sclerosis, Intellectual Disability, Humans, Medicine, Prospective Studies, Age of Onset, Risk factor, Intelligence Tests, business.industry, Intellectual impairment, Infant, medicine.disease, Neurology, Seizure Disorders, Child, Preschool, Female, Neurology (clinical), business, Spasms, Infantile
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3
المؤلفون: John R W, Yates
المصدر: European Journal of Human Genetics. 14:1065-1073
مصطلحات موضوعية: Adult, Tuberous Sclerosis, Child, Preschool, Tumor Suppressor Proteins, Tuberous Sclerosis Complex 2 Protein, Genetics, Humans, Tuberous Sclerosis Complex 1 Protein, Genetics (clinical)
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4
المؤلفون: Allan J. Richards, David M. Baguley, John R. W. Yates, Carol Lane, Mary Nicol, Peter S. Harper, John D. Scott, Martin P. Snead
المصدر: The American Journal of Human Genetics. 67:1083-1094
مصطلحات موضوعية: Genetics, Genetics (clinical)
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5
المؤلفون: Humma, Shahid, Jane C, Khan, Valentina, Cipriani, Tiina, Sepp, Baljinder K, Matharu, Catey, Bunce, Simon P, Harding, David G, Clayton, Anthony T, Moore, John R W, Yates, D A, Thurlby
المصدر: The British journal of ophthalmology. 96(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, genetic structures, Genotype, Vision Disorders, Disease, Polymorphism, Single Nucleotide, Cellular and Molecular Neuroscience, Macular Degeneration, Risk Factors, Ophthalmology, Surveys and Questionnaires, Epidemiology, medicine, Odds Ratio, Prevalence, Humans, Sibling Relations, Risk factor, Family history, Aged, Family Health, business.industry, Case-control study, Proteins, Odds ratio, Complement C3, Macular degeneration, medicine.disease, eye diseases, Sensory Systems, Case-Control Studies, Complement Factor H, Female, sense organs, business, Risk assessment, Complement Factor B
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6
المؤلفون: Feza Deymeer, Yilmaz Nisanci, John R. W. Yates, Coşkun Özdemir, Cihangir Kaymaz, Cicek Bayindir, Kamil Adalet, A. Emre Öge
المصدر: Muscle & Nerve. 16:1359-1365
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Physiology, business.industry, Muscle weakness, Anatomy, medicine.disease, Dermatology, Cellular and Molecular Neuroscience, Slow progression, Wide phenotypic spectrum, Physiology (medical), medicine, X-linked muscular dystrophy, Neurology (clinical), Emery–Dreifuss muscular dystrophy, medicine.symptom, Muscular dystrophy, business, Muscle contracture, Paresis
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7
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8دورية أكاديمية
المؤلفون: Esther Meyer, Derek Lim, Shanaz Pasha, Louise J Tee, Fatimah Rahman, John R W Yates, C Geoffrey Woods, Wolf Reik, Eamonn R Maher
المصدر: PLoS Genetics, Vol 5, Iss 3, p e1000423 (2009)
وصف الملف: electronic resource