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1دورية أكاديمية
المؤلفون: L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen, T R P Cole
المصدر: Endocrine Connections, Vol 8, Iss 2, Pp 100-111 (2019)
مصطلحات موضوعية: next generation sequencing (NGS), disorders of sex development (DSD), gene, variant, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2
المؤلفون: T. R. P. Cole, H E Hughes
المصدر: Journal of Medical Genetics. 31:20-32
مصطلحات موضوعية: Heart Defects, Congenital, Male, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Gastrointestinal Diseases, Developmental Disabilities, Chromosome Disorders, Diagnosis, Differential, Age Determination by Skeleton, Genetics, medicine, Humans, Abnormalities, Multiple, First-degree relatives, Child, Gait, Respiratory Tract Infections, Genetics (clinical), Weaver syndrome, Chromosome Aberrations, Anthropometry, Sotos syndrome, business.industry, Infant, Bone age, Syndrome, medicine.disease, Natural history, Child, Preschool, Face, Female, Differential diagnosis, business, Research Article
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3
المؤلفون: H. W. Venema, T. R. P. Cole, J. W. E. Oorthuys, R. E. T. Nocker, J. Oosting, Piet F. Dijkstra
المساهمون: Other departments
المصدر: American journal of medical genetics, 51(1), 55-60. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, Marfan syndrome, Pediatrics, medicine.medical_specialty, Adolescent, Gigantism, Marfan Syndrome, Diagnosis, Differential, Fingers, Reference Values, medicine, Humans, Profile analysis, Child, Genetics (clinical), Long metacarpals, Anthropometry, business.industry, Sotos syndrome, Discriminant Analysis, Infant, Anatomy, Phalanx, medicine.disease, Radiography, Short metacarpal, medicine.anatomical_structure, Epiphysis, Child, Preschool, Female, Metacarpus, Differential diagnosis, business
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4
المؤلفون: A. May, T. R. P. Cole, H. E. Hughes
المصدر: Journal of Medical Genetics. 28:734-737
مصطلحات موضوعية: Adult, Male, X Chromosome, Adolescent, Genetic Linkage, Thalassemia, Physiology, Alpha (ethology), Genetic linkage, Intellectual Disability, Genetics, medicine, Humans, Genetics (clinical), X-linked recessive inheritance, X chromosome, Hemoglobin H, business.industry, Heterozygote advantage, Syndrome, medicine.disease, Phenotype, Pedigree, Hemoglobinopathy, business, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b9e4ae87e1f1022c0f8f459a0fb8dc7
https://doi.org/10.1136/jmg.28.11.734 -
5
المؤلفون: H. E. Hughes, T. R. P. Cole
المصدر: American Journal of Medical Genetics. 41:115-124
مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Pediatrics, Cephalometry, Developmental Disabilities, Birth weight, Gigantism, Clinical study, Frontal Bossing, Internal medicine, medicine, Humans, Megalencephaly, Genetics (clinical), Genes, Dominant, Anthropometry, Sotos syndrome, business.industry, Infant, Newborn, Long philtrum, Macrocephaly, medicine.disease, Pedigree, Endocrinology, Child, Preschool, Face, Female, medicine.symptom, business
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6
المؤلفون: M.I. Rees, David Ravine, Meena Upadhyaya, R.T. Howell, Peter Thompson, Katherine Baker, T R P Cole, H. E. Hughes
مصطلحات موضوعية: Proband, Genetics, medicine.medical_specialty, business.industry, medicine.medical_treatment, Birth weight, Scoliosis, medicine.disease, Hypotonia, Surgery, Adenoidectomy, medicine, Deformity, Pectus carinatum, medicine.symptom, Chromosome breakage, business, Letters to the Editor, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5048a0b59b87ed66a05e7fa68699003b
https://europepmc.org/articles/PMC1757176/ -
7
المؤلفون: H. E. Hughes, T. R. P. Cole
المصدر: American Journal of Medical Genetics. 44:72-74
مصطلحات موضوعية: Marfan syndrome, Leg, business.industry, fungi, Infant, Newborn, Anatomy, medicine.disease, Lower limb, Hypoplasia, Marfan Syndrome, Radiography, Arachnodactyly, Phenotype, Humans, Medicine, Female, Congenital contractural arachnodactyly, Contracture, medicine.symptom, business, Genetics (clinical)
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8
المؤلفون: T R P Cole, H V Sleightholme
المصدر: BMJ (Clinical research ed.). 321(7266)
مصطلحات موضوعية: Risk, medicine.medical_specialty, Pediatrics, Clinical Review, Adenomatous polyposis coli, Colorectal cancer, Genetic counseling, Genetics, Medical, Gastroenterology, Familial adenomatous polyposis, Internal medicine, medicine, Humans, Genetic Testing, Family history, biology, business.industry, Cancer, General Medicine, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Adenomatous Polyposis Coli, England, biology.protein, Etiology, Medical genetics, business, Colorectal Neoplasms, Algorithms
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المؤلفون: David Ravine, T R P Cole, N J Shaw, J C Agwu, J Kirk, S Chapman
المصدر: Archives of disease in childhood. 80(4)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Growth, Gigantism, Age Determination by Skeleton, Acromegaly, medicine, Humans, education, Child, Menarche, education.field_of_study, Anthropometry, Sotos syndrome, business.industry, Facies, Bone age, Syndrome, Original Articles, medicine.disease, Prognosis, Body Height, Surgery, El Niño, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business
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10
المؤلفون: D. K. Williams, T. R. P. Cole, D. R. Carlton, K. Pearman, S. H. Green
المصدر: Journal of medical genetics. 34(10)
مصطلحات موضوعية: Respiratory complications, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Marshall–Smith syndrome, Genetics, Medicine, Humans, Abnormalities, Multiple, Lung Diseases, Obstructive, Respiratory system, Genetics (clinical), Bone Diseases, Developmental, business.industry, Respiratory disease, Bone age, Syndrome, Airway obstruction, medicine.disease, Prognosis, Failure to Thrive, Radiography, Phenotype, El Niño, Child, Preschool, Face, Failure to thrive, Female, medicine.symptom, business, Follow-Up Studies, Research Article