المؤلفون: Nicola Perrotti, Teresa Grillone, Rodolfo Iuliano, Vincenzo Scorcia, Domenica Mangialavori, Adriano Carnevali, Emma Colao, D Bruzzichessi

المصدر: Cornea. 34:976-979

مصطلحات موضوعية: Male, Proband, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, Polymerase Chain Reaction, Megalocornea, Exon, medicine, Humans, Coding region, Child, Eye Proteins, Gene, Sequence Deletion, Genetics, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Stop codon, Pedigree, Ophthalmology, genomic DNA, Child, Preschool, Mutation (genetic algorithm)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28fbdfd36aad3ac4326220b3d1bfbd37Test
https://doi.org/10.1097/ico.0000000000000472Test

المؤلفون: Denise Emmerich, Björn Fischer-Zirnsak, Peter Ruokonen, Barbara Seliger, Renate Buchen, Eva Klopocki, Peter Krawitz, Jochen Hecht, Katrin Hoffmann, Thomas Reinhard, Dagmar Quandt, Ekkehart Lausch, Thomas Hollemann, Thorsten Pfirrmann, Bernhard Zabel, Claudia Auw-Haedrich, Pablo Villavicencio-Lorini, Sigmar Stricker, Peter Meyer

مصطلحات موضوعية: Male, Adolescent, ved/biology.organism_classification_rank.species, DNA Mutational Analysis, Xenopus, Gene Expression, Nerve Tissue Proteins, Bone Morphogenetic Protein 4, Bone morphogenetic protein, Cornea, Megalocornea, Xenopus laevis, Genetics, medicine, Animals, Humans, Limbal stem cell, Model organism, Eye Proteins, Frameshift Mutation, Molecular Biology, Genetics (clinical), Genetic Association Studies, Cornea disorder, biology, Base Sequence, ved/biology, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, biology.organism_classification, medicine.disease, Phenotype, eye diseases, Cell biology, Pedigree, medicine.anatomical_structure, Female, sense organs, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf4ca420cd52c7cb2cb231f36f77f8bTest
http://doc.rero.ch/record/300559/files/ddv063.pdfTest

المؤلفون: Anthony T. Moore, Stephen J Tuft, Alison J. Hardcastle, Graham E. Holder, Anthony G. Robson, Jonathan B Ruddle, Sanjay M. Sisodiya, Mahinda Yogarajah, Seyhan Yazar, Wei Ang, Michael E. Cheetham, Jane C. Sowden, Chiea Chuen Khor, Elias I. Traboulsi, Tin Aung, Jessica C. Gardner, Tom R. Webb, Hala Hassan, Mar Matarin, Michel Michaelides, Daniel Kelberman, Craig E. Pennell, David A. Mackey

المصدر: The American Journal of Human Genetics. 90:247-259

مصطلحات موضوعية: Adult, Male, Cerebellum, DNA Copy Number Variations, Molecular Sequence Data, Quantitative Trait Loci, Nerve Tissue Proteins, Biology, Article, Retina, Corneal Diseases, Cornea, White matter, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Anterior Eye Segment, Genes, X-Linked, Intellectual Disability, Genetics, medicine, Humans, Genetics(clinical), Eye Abnormalities, Eye Proteins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neocortex, Base Sequence, Cerebral Palsy, Deep anterior chamber, Brain, Genetic Diseases, X-Linked, Anatomy, Middle Aged, medicine.disease, Megalencephaly, Pedigree, Phenotype, medicine.anatomical_structure, Mutation, 030221 ophthalmology & optometry, Female, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c3e2b945b77d27185144af594b16d3Test
https://doi.org/10.1016/j.ajhg.2011.12.019Test