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1
المؤلفون: Alison Salt, J. Richard O. Collin, Preeti Bakrania, Ruth Newbury-Ecob, Y. Abou-Rayyah, Nicola K. Ragge, Robert Osborne, John A. Crolla, David O. Robinson, Carmen Ayuso, David J. Bunyan, Alexander W. Wyatt
المصدر: Human Mutation. 29:E278-E283
مصطلحات موضوعية: Male, Heterozygote, Adolescent, Developmental Disabilities, DNA Mutational Analysis, Biology, Microphthalmia, Gene Deletions, Eye malformations, Severe visual impairment, Genetics, medicine, Humans, Microphthalmos, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomes, Human, Pair 14, Comparative Genomic Hybridization, Coloboma, Otx Transcription Factors, Anophthalmia, Anophthalmos, Infant, medicine.disease, Phenotype, eye diseases, Pedigree, Child, Preschool, Homeobox, Female, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e928b5a557559228d648482cf008bbfTest
https://doi.org/10.1002/humu.20869Test -
2
المؤلفون: Helen Stewart, Nicola K. Ragge, Alexander W. Wyatt, Robert Osborne
المصدر: Human mutation. 31(7)
مصطلحات موضوعية: animal structures, Kozak consensus sequence, Bone Morphogenetic Protein 7, DNA Mutational Analysis, Molecular Sequence Data, Biology, Bone morphogenetic protein, Bioinformatics, medicine.disease_cause, Microphthalmia, Bone and Bones, Frameshift mutation, Congenital Abnormalities, Genetics, medicine, Missense mutation, Genetic Predisposition to Disease, Amino Acid Sequence, Eye Abnormalities, Ear Diseases, Genetics (clinical), In Situ Hybridization, Mutation, Anophthalmia, Base Sequence, Sequence Homology, Amino Acid, Palate, Brain, Ear, medicine.disease, Bone morphogenetic protein 7, embryonic structures
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8274aaeeef07e349793af56c2fa71edbTest
https://pubmed.ncbi.nlm.nih.gov/20506283Test -
3
المؤلفون: Jiannis Ragoussis, J. Richard O. Collin, Christian Kluck, Alexander W. Wyatt, Martin Farrall, Peter Nürnberg, Robert Osborne, Helen Herbert, Angela Martin, Nicola K. Ragge, Ghazala Mirza, Gudrun Nürnberg, Muhammad Sajid Hussain, Sibel Aylin Ugur Iseri, Mark Lathrop
المصدر: Human mutation. 30(10)
مصطلحات موضوعية: Male, Candidate gene, Genotype, genetic structures, Genes, Recessive, Biology, medicine.disease_cause, Microphthalmia, Aphakia, Polymorphism, Single Nucleotide, Dysgenesis, Congenital primary aphakia, Genetics, medicine, Humans, Eye Abnormalities, Sclerocornea, Genetics (clinical), In Situ Hybridization, DNA Primers, Genes, Dominant, Mutation, Base Sequence, Forkhead Transcription Factors, medicine.disease, eye diseases, Pedigree, Female, sense organs, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f05f1f45c680976dcb5d41420423b23Test
http://ora.ox.ac.uk/objects/uuid:f1594dba-f7a8-4e31-8f68-6c00c544288fTest