المؤلفون: Marc Abramowicz, Françoise Meire, Yves Sznajer, Marc Schrooyen, Françoise Roulez, Fanny Depasse, Julie Désir

المصدر: European Journal of Human Genetics
European journal of human genetics

مصطلحات موضوعية: Marfan syndrome, Male, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Biology, Article, Megalocornea, Microspherophakia, Marfan, Genetics, medicine, Humans, Eye Abnormalities, RNA, Messenger, Ectopia lentis, Child, Genetics (clinical), Base Sequence, Infant, Glaucoma, Syndrome, Sciences bio-médicales et agricoles, medicine.disease, Disease gene identification, Null allele, Exon skipping, Pedigree, Latent TGF-beta Binding Proteins, Child, Preschool, Mutation, microspherophakia, Female, Candidate Gene Analysis, megalocornea

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77886f931702e3fe9c9b1362394e1cTest
http://europepmc.org/articles/PMC2987369Test

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

المؤلفون: Mario Marconi, Lucia Pedace, Marco Castori, Vito Briganti, E Buffone, Luigi Laino, Paola Grammatico, Barbara Grammatico, Andrea Zampini

المصدر: European journal of medical genetics. 53(3)

مصطلحات موضوعية: Polyhydramnios, Microcephaly, Developmental Disabilities, Intestinal Atresia, Biology, Eye, Megalocornea, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Sclerocornea, Congenital Malformation Syndrome, Genetics (clinical), Comparative Genomic Hybridization, Intestinal atresia, Infant, General Medicine, Anatomy, Syndrome, medicine.disease, Natural history, Jejunal atresia, microcephaly, apple peel intestinal atresia, jejunal atresia, syndrome delineation, strømme syndrome, anterior chamber anomalies, megalocornea, ocular, eye, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134edc1957f3b435c355570ed29d77c3Test
https://pubmed.ncbi.nlm.nih.gov/20219704Test

المؤلفون: D. Frank Milam, Anita E. Hendrickson, Roberta A Pagon, Sterling K. Clarren

المصدر: The Journal of pediatrics. 102(4)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, genetic structures, Eye Diseases, Cerebellar dysplasia, Chromosome Disorders, Encephalocele, Megalocornea, Terminology as Topic, medicine, Humans, Eye Abnormalities, Walker–Warburg syndrome, Genetics, Chromosome Aberrations, Coloboma, Brain Diseases, business.industry, Infant, Newborn, Brain, Syndrome, medicine.disease, eye diseases, Persistent hyperplastic primary vitreous, Pediatrics, Perinatology and Child Health, Retinal dysplasia, Microphthalmos, Female, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08491fd8945c3915faa3f5174001a2d6Test
https://pubmed.ncbi.nlm.nih.gov/6403688Test