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1
المؤلفون: A R, Larson, K D, Josephson, R M, Pauli, J M, Opitz, M S, Williams
المصدر: American journal of medical genetics. 101(2)
مصطلحات موضوعية: Family Health, Fingers, Male, Scapula, Adolescent, Thumb, Klippel-Feil Syndrome, Cervical Vertebrae, Humans, Abnormalities, Multiple, Syndrome, Pedigree
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2
المؤلفون: L M, Wittine, K D, Josephson, M S, Williams
المصدر: American journal of medical genetics. 86(5)
مصطلحات موضوعية: Adult, Diagnosis, Differential, Heart Septal Defects, Ventricular, Male, Aortic Valve, Face, Humans, Abnormalities, Multiple, Syndrome, Dilatation, Pathologic, Marfan Syndrome, Pedigree
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3
المؤلفون: M S, Williams, K D, Josephson, D S, Wargowski, G W, Dewald
المصدر: WMJ : official publication of the State Medical Society of Wisconsin. 97(4)
مصطلحات موضوعية: Craniofacial Abnormalities, Gene Rearrangement, Patient Care Team, Fetal Growth Retardation, Intellectual Disability, Humans, Infant, Female, Syndrome, Chromosomes, Human, Pair 4, Translocation, Genetic, Chromosomes, Human, Pair 17
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b0ecd188e03e9866729f65fb5365c379
https://pubmed.ncbi.nlm.nih.gov/9584686 -
4
المؤلفون: M S, Williams, K D, Josephson
المصدر: American journal of medical genetics. 73(3)
مصطلحات موضوعية: Lymphatic System, Male, Fatal Outcome, Infant, Newborn, Humans, Ear, Genes, Recessive, Radiography, Thoracic, Lymphangioma, Cystic, Chylothorax
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5
المؤلفون: A L, Aswegan, K D, Josephson, R, Mowbray, R M, Pauli, R A, Spritz, M S, Williams
المصدر: American journal of medical genetics. 72(4)
مصطلحات موضوعية: Adult, Hypohidrosis, Male, Tooth Abnormalities, Facies, Nails, Malformed, Pedigree, Ectodermal Dysplasia, Humans, Abnormalities, Multiple, Female, Child, Genes, Dominant, Hair
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6
المؤلفون: R M, Pauli, M S, Williams, K D, Josephson, G S, Tint
المصدر: American journal of medical genetics. 68(3)
مصطلحات موضوعية: Adult, Cholesterol, Dietary, Male, Humans, Follow-Up Studies, Smith-Lemli-Opitz Syndrome
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7
المؤلفون: M S, Williams, K D, Josephson, R M, Pauli
المصدر: Clinical dysmorphology. 4(3)
مصطلحات موضوعية: Male, Radiography, Forearm, Child, Preschool, Humans, Osteochondrodysplasias, Head, Body Height, Bone and Bones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dded66ebf3eee6566a15f98b6baad5c7
https://pubmed.ncbi.nlm.nih.gov/7551157 -
8
المؤلفون: M S, Williams, K D, Josephson, D S, Wargowski
المصدر: Clinical dysmorphology. 2(3)
مصطلحات موضوعية: Cleft Palate, Male, Hypospadias, Contracture, Developmental Disabilities, Face, Infant, Newborn, Humans, Abnormalities, Multiple, Mandible, Syndrome, Blepharophimosis, Musculoskeletal Abnormalities
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4774c0aaee5c3a72baa651d3544349f8
https://pubmed.ncbi.nlm.nih.gov/7506965 -
9
المؤلفون: Marc S. Williams, F S Edelman, Gurbax S. Sekhon, S Scheib-Wixted, K D Josephson
المصدر: Genetics in Medicine. 1:71
مصطلحات موضوعية: Genetics, Pediatrics, medicine.medical_specialty, Ring (mathematics), Cohen syndrome, Karyotype, Biology, medicine.disease, Molecular cytogenetics, Chromosome analysis, Speech delay, medicine, medicine.symptom, Trisomy, Genetics (clinical), Tetralogy of Fallot
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9de7b823755d38a2677c6b6c969cafec
https://doi.org/10.1097/00125817-199901000-00120