المؤلفون: C.D. van Karnebeek, C. Koevoets, S. Sluijter, E.K. Bijlsma, D.F.C.M. Smeets, E.J.W. Redeker, R.C.M. Hennekam, J.M.N. Hoovers

المصدر: Journal of Medical Genetics (00222593) vol.39 (2002) p.546-553

Relation: http://hdl.handle.net/11245/1.203937

الاتاحة: http://hdl.handle.net/11245/1.203937

المؤلفون: E.K. Bijlsma, C.M. Aalfs, S. Sluijter, M.E.M. Oude Luttikhuis, R.C. Trembath, J.M.N. Hoovers, R.C.M. Hennekam

المصدر: Journal of Medical Genetics (00222593) vol.36 (1999) p.604-609

Relation: http://hdl.handle.net/11245/1.159176

الاتاحة: http://hdl.handle.net/11245/1.159176

المؤلفون: L. J. J. M. Wenniger-Prick, Cora M. Aalfs, Veronica van Heyningen, S. Sluijter, Raoul C.M. Hennekam, J. Fantes, Jan M.N. Hoovers

المساهمون: Other departments

المصدر: American journal of medical genetics, 73(3), 267-271. Wiley-Liss Inc.

مصطلحات موضوعية: Genetics, Eye disease, Wilms' tumor, Biology, medicine.disease, Bioinformatics, Gene dosage, eye diseases, Gene product, Aniridia, Gene duplication, medicine, sense organs, Tandem exon duplication, PAX6, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c79da6c9ced7cfb88f36d93c2ffe1e
https://doi.org/10.1002/(sici)1096-8628(19971219)73:3<267::aid-ajmg7>3.0.co;2-p

المؤلفون: M F, Mohrschladt, E K, Bijlsma, S, Sluijter, R F, De Coo, J M, Hoovers, N J, Leschot

المصدر: Clinical dysmorphology. 8(3)

مصطلحات موضوعية: Child, Preschool, Face, Gene Duplication, Karyotyping, Humans, Chromosomes, Human, Pair 6, Female, Psychomotor Disorders, Chromosomes, Human, Pair 9, In Situ Hybridization, Fluorescence, Translocation, Genetic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d1e0f3aa1420be62248fde1c69d6981e
https://pubmed.ncbi.nlm.nih.gov/10457857

المؤلفون: C M, Aalfs, J A, Fantes, L J, Wenniger-Prick, S, Sluijter, R C, Hennekam, V, van Heyningen, J M, Hoovers

المصدر: American journal of medical genetics. 73(3)

مصطلحات موضوعية: Chromosome Aberrations, Homeodomain Proteins, PAX6 Transcription Factor, Chromosomes, Human, Pair 11, Developmental Disabilities, Gene Dosage, Infant, Chromosome Disorders, DNA-Binding Proteins, Repressor Proteins, Face, Karyotyping, Multigene Family, Humans, Paired Box Transcription Factors, Female, Eye Abnormalities, Eye Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e6532feed95827c3bd44227e42b9848a
https://pubmed.ncbi.nlm.nih.gov/9415682