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1
المصدر: Clinical Genetics. 25:470-472
مصطلحات موضوعية: Male, Cysts, Orbital Diseases, Skin Abnormalities, Genetics, Brain, Humans, Abnormalities, Multiple, Female, Eye Abnormalities, Syndrome, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3498a15729102ad3c354dbfe89fcc6b1
https://doi.org/10.1111/j .1399-0004.1984.tb02019.x -
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المؤلفون: V, Culić, B, Resic, J W, Oorthuys, W C, Overweg-Plandsoen, R C, Hennekam
المصدر: Genetic counseling (Geneva, Switzerland). 7(1)
مصطلحات موضوعية: Male, Radiography, Bone Diseases, Developmental, Intellectual Disability, Humans, Infant, Abnormalities, Multiple, Epilepsies, Myoclonic, Genetic Counseling, Syndrome, Bone and Bones, Facial Bones
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3
المؤلفون: W A, Helbing, J F, van der Blij, R, ten Houten, G, Broere, J W, Oorthuys
المصدر: Tijdschrift voor kindergeneeskunde. 59(3)
مصطلحات موضوعية: Life Expectancy, Apnea, Brain, Humans, Infant, Muscle Hypotonia, Female, Atrophy, Magnetic Resonance Imaging, Achondroplasia
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4
المؤلفون: J de Groote, N C Nevin, J W Oorthuys, F M Pope, A. De Paepe, P A Farndon, Anne H. Child, M V Kilpatrick
مصطلحات موضوعية: Linkage (software), Genetics, Marfan syndrome, Systemic disease, Collagen degradation, Chromosome, Biology, medicine.disease, Gene mapping, Genetic marker, Genetic linkage, medicine, Genetics (clinical), Research Article
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5
المؤلفون: A C Nicholls, Narcisi P, Liberman M, F M Pope, J W Oorthuys
المصدر: Archives of Disease in Childhood. 63:1016-1025
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Prenatal diagnosis, Disease, medicine, Humans, Child, Type III collagen, Middle Adult, business.industry, Infant, Newborn, medicine.disease, Ehlers-Danlos syndrome type IV, Facial Expression, Low birth weight, Ehlers–Danlos syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Female, Collagen, medicine.symptom, Restriction fragment length polymorphism, business, Research Article
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6
المؤلفون: J W, Oorthuys
المصدر: Nederlands tijdschrift voor geneeskunde. 131(23)
مصطلحات موضوعية: Humans, Ehlers-Danlos Syndrome, Intracranial Aneurysm, Collagen
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7
المؤلفون: J W, Oorthuys, M H, Gons, J V, Kwakman, R B, Schutgens, W H, Tegelaers
المصدر: Nederlands tijdschrift voor geneeskunde. 129(2)
مصطلحات موضوعية: Adult, Adolescent, Phenylalanine, Phenylketonurias, Humans, Mass Screening, Female, Netherlands
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8
المؤلفون: P, Fleury, K, Dingemans, W P, de Groot, A P, Oranje, P A, Voûte, M J, Woerdeman, J W, Delleman, J W, Oorthuys, A J, Verboom
المصدر: Clinical neurology and neurosurgery. 88(1)
مصطلحات موضوعية: Central Nervous System, Male, Nevus, Pigmented, Skin Neoplasms, Adolescent, Infant, Syndrome, Microscopy, Electron, Child, Preschool, Humans, Abnormalities, Multiple, Female, Pigmentation Disorders, Skin
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9
المؤلفون: P G, Barth, P, Fleury, J W, Oorthuys
المصدر: Tijdschrift voor kindergeneeskunde. 52(6)
مصطلحات موضوعية: Male, Brain Diseases, Contracture, Child, Preschool, Muscles, Infant, Newborn, Brain, Humans, Infant, Female, Child, Muscular Dystrophies
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10
المؤلفون: J W Oorthuys, K B Gerssen-Schoorl, J M de Pater, H F de France
مصطلحات موضوعية: Genetics, Adult, Male, Partial Trisomy, business.industry, Trisomy, Biology, Bone and Bones, Chromosome Banding, Text mining, Face, Intellectual Disability, Humans, Chromosomes, Human, Pair 4, business, Genetics (clinical), Research Article
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المؤلفون: J W, Oorthuys
المصدر: Tijdschrift voor kindergeneeskunde. 52(5)
مصطلحات موضوعية: Male, Aortic Valve Stenosis, Syndrome, Twins, Monozygotic, Facial Bones, Phenotype, Pregnancy, Face, Intellectual Disability, Diseases in Twins, Humans, Abnormalities, Multiple, Female, Vitamin D, Child