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1
المؤلفون: G J, Van Buggenhout, J M, Trijbels, R, Wevers, J C, Trommelen, B C, Hamel, H G, Brunner, J P, Fryns
المصدر: Genetic counseling (Geneva, Switzerland). 12(1)
مصطلحات موضوعية: Adult, Male, Phenotype, Metabolic Diseases, Intellectual Disability, Humans, Female, Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::37ce482acb866166d72e48845326e4ba
https://pubmed.ncbi.nlm.nih.gov/11332972 -
2
المؤلفون: G J, Van Buggenhout, M J, Descheemaeker, P, Thiry, J C, Trommelen, B C, Hamel, J P, Fryns
المصدر: Genetic counseling (Geneva, Switzerland). 11(4)
مصطلحات موضوعية: Male, Intellectual Disability, Humans, Abnormalities, Multiple, Female, Angelman Syndrome, Middle Aged, Nervous System Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e974e24f57d71b461355cf6d1028eebd
https://pubmed.ncbi.nlm.nih.gov/11140414 -
3
المؤلفون: G J, Van Buggenhout, J C, Trommelen, A, Schoenmaker, C, De Bal, J J, Verbeek, D F, Smeets, H H, Ropers, K, Devriendt, B C, Hamel, J P, Fryns
المصدر: American journal of medical genetics. 85(4)
مصطلحات موضوعية: Adult, Male, Cytogenetics, Hearing, Intellectual Disability, Thyroid Gland, Visual Acuity, Humans, Female, Down Syndrome, Middle Aged
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4
المؤلفون: G J, Van Buggenhout, C M, Van Ravenswaaij-Arts, W O, Renier, M P, Van de Wiel, J C, Trommelen, E, Pijkels, B C, Hamel, J P, Fryns
المصدر: Genetic counseling (Geneva, Switzerland). 7(3)
مصطلحات موضوعية: Adult, Chromosome Aberrations, Male, Bone Diseases, Developmental, Adolescent, Chromosome Disorders, Genes, Recessive, Syndrome, Deafness, Middle Aged, Face, Intellectual Disability, Humans, Abnormalities, Multiple
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b6d75c46719acaff17b1d60f89556898
https://pubmed.ncbi.nlm.nih.gov/8897038 -
5
المؤلفون: G J, Van Buggenhout, H G, Brunner, J C, Trommelen, B C, Hamel
المصدر: Genetic counseling (Geneva, Switzerland). 6(4)
مصطلحات موضوعية: Chromosome Aberrations, Male, Skull, Chromosome Disorders, Syndrome, Middle Aged, Facial Bones, Diagnosis, Differential, Fingers, Intellectual Disability, Gingival Hyperplasia, Humans, Abnormalities, Multiple, Fibromatosis, Gingival, Genes, Dominant
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cc6315cf77c0fe57e98d33faf76fde5f
https://pubmed.ncbi.nlm.nih.gov/8775419 -
6
المؤلفون: G J, Van Buggenhout, A C, Akkermans-Scholten, B C, Hamel
المصدر: Genetic counseling (Geneva, Switzerland). 6(1)
مصطلحات موضوعية: Intellectual Disability, Skull, Humans, Abnormalities, Multiple, Female, Child, Facial Bones, Marfan Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8a03cf8af0dada8f518891588944095f
https://pubmed.ncbi.nlm.nih.gov/7794564 -
7
المؤلفون: G J, Van Buggenhout, J, Verbruggen, J P, Fryns
المصدر: Annales de genetique. 38(1)
مصطلحات موضوعية: Chromosomes, Human, Pair 22, Karyotyping, Pregnancy, High-Risk, Humans, Abnormalities, Multiple, Female, Trisomy, Kidney, Fetal Death, Oligohydramnios, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7c1114bd42f67c03f0da4ff798d40a7b
https://pubmed.ncbi.nlm.nih.gov/7625758