المؤلفون: Ivanov I; Department of Paediatric Neurology, Children's Medical Centre of Israel, Petah Tiqva, Israel., Shuper A, Shohat M, Snir M, Weitz R

المصدر: European journal of pediatrics [Eur J Pediatr] 1995 Oct; Vol. 154 (10), pp. 795-800.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print ISSN: 0340-6199 (Print) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Homeodomain Proteins*, Aniridia/*genetics, Child ; Chromosome Aberrations/genetics ; Chromosome Disorders ; Chromosome Mapping ; Chromosomes, Human, Pair 11 ; DNA Mutational Analysis ; DNA-Binding Proteins/genetics ; Eye Proteins ; Genes, Dominant/genetics ; Genetic Counseling ; Humans ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Pedigree ; Repressor Proteins ; Syndrome ; Transcription Factors/genetics

المؤلفون: Gödde-Salz, E., Behnke, H.

المصدر: European Journal of Pediatrics. March 1981 136(1):93-96

المؤلفون: Avinoam Shuper, Ivan Ivanov, Moshe Snir, Raphael Weitz, Mordechai Shohat

المصدر: European journal of pediatrics. 154(10)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Visual acuity, genetic structures, PAX6 Transcription Factor, Genetic counseling, DNA Mutational Analysis, WAGR syndrome, Glaucoma, Chromosome Disorders, Genetic Counseling, Ophthalmology, medicine, Humans, Paired Box Transcription Factors, Child, Eye Proteins, Aniridia, Dominance (genetics), Genes, Dominant, Chromosome Aberrations, Homeodomain Proteins, business.industry, Chromosomes, Human, Pair 11, Macular hypoplasia, Chromosome Mapping, Syndrome, medicine.disease, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Pediatrics, Perinatology and Child Health, sense organs, PAX6, medicine.symptom, business, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e557a2739c1cdd732b3fd8e32ddfabad
https://pubmed.ncbi.nlm.nih.gov/8529675

المؤلفون: Fryns, J. P., Beirinckx, J., De Sutter, E., Derluyn, J., Francois, J., Van den Berghe, H.

المصدر: European Journal of Pediatrics. March 1981 136(1):91-92

المؤلفون: H. Behnke, E. Gödde-Salz

المصدر: European Journal of Pediatrics. 136:93-96

مصطلحات موضوعية: Adult, Chromosomes, Human, 6-12 and X, Genetics, Microcephaly, business.industry, Breakpoint, Iris, Chromosome, Chromosomal translocation, Karyotype, Mentally retarded, medicine.disease, Translocation, Genetic, Chromosome Banding, Aniridia, Intellectual Disability, Karyotyping, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, Chromosome Deletion, Prometaphase, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::364d197a13f710cb57171722783ae98b
https://doi.org/10.1007/bf00441719

المؤلفون: J. Derluyn, H. Van den Berghe, J. François, J. P. Fryns, J. Beirinckx, E. De Sutter

المصدر: European journal of pediatrics. 136(1)

مصطلحات موضوعية: Genetics, Chromosomes, Human, 6-12 and X, Male, Pathology, medicine.medical_specialty, Severely mentally retarded, Aniridia-Wilms tumor association, Genitourinary system, business.industry, Iris, Wilms' tumor, medicine.disease, Wilms Tumor, Aniridia, Child, Preschool, Intellectual Disability, Pediatrics, Perinatology and Child Health, medicine, Humans, Chromosome Deletion, business, Chromosomal Deletion, Craniofacial dysmorphism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472105d679c4a57a87f06cad5ab6e64d
https://pubmed.ncbi.nlm.nih.gov/6260504

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