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المؤلفون: Veronica van Heyningen, Brian Kendall, Anthony T. Moore, Kathleen A. Williamson, Samantha L. Free, John M. Stevens, Tejal N. Mitchell, Sanjay M. Sisodiya, Simon Shorvon, Isabel M. Hanson, Catherine Willis
المصدر: Nature Genetics. 28:214-216
مصطلحات موضوعية: Adult, Male, Telencephalon, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Central nervous system, Anterior commissure, Biology, Nervous System Malformations, Olfaction Disorders, Genetics, medicine, Humans, Paired Box Transcription Factors, Eye Proteins, Aniridia, Homeodomain Proteins, medicine.diagnostic_test, Cerebrum, Magnetic resonance imaging, Anatomy, Middle Aged, medicine.disease, Magnetic Resonance Imaging, eye diseases, Hypoplasia, Repressor Proteins, medicine.anatomical_structure, Female, sense organs, PAX6, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3708b23aca8e6f26f5462d167caf2943Test
https://doi.org/10.1038/90042Test -
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المؤلفون: J. M. Fletcher, Isabel M. Hanson, Hope H. Punnett, David Taylor, Alison Brown, Veronica van Heyningen, Rebecca J. Adams, Tim Jordan
المصدر: Nature genetics. 6(2)
مصطلحات موضوعية: Male, PAX6 Transcription Factor, Transcription, Genetic, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Mice, Corneal Opacity, Anterior Eye Segment, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Point Mutation, Amino Acid Sequence, RNA, Messenger, Eye Proteins, Gene, In Situ Hybridization, Fluorescence, Cell Line, Transformed, Homeodomain Proteins, Base Sequence, Chromosomes, Human, Pair 11, Infant, Wilms' tumor, medicine.disease, Phenotype, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Aniridia, Female, sense organs, PAX6, Homeotic gene, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8563c8756b14e98eee4f0d4843468c22Test
https://pubmed.ncbi.nlm.nih.gov/8162071Test -
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المؤلفون: Shirley Hodgson, Anne Seawright, Isabel M. Hanson, Veronica van Heyningen, Tim Jordan, Nicholas D. Hastie, Jane Prosser, Dmitri Zaletayev
المصدر: Nature genetics. 1(5)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Positional cloning, Molecular Sequence Data, Biology, medicine.disease_cause, Polymerase Chain Reaction, Cell Line, Exon, Mice, Genetics, medicine, Animals, Humans, Gene, Aniridia, Sequence Deletion, Mutation, Base Sequence, Chromosomes, Human, Pair 11, Pax genes, Chromosome Mapping, DNA, Exons, medicine.disease, Phenotype, Molecular biology, eye diseases, Oligodeoxyribonucleotides, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4f996cbe4ae3691d55502cf592d99fTest
https://pubmed.ncbi.nlm.nih.gov/1302030Test