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المؤلفون: Federica Calì, Marco Castori, Anwar Baban, Antonio Novelli, Aurelio Secinaro, Paola Grammatico, Viola Alesi, Fabrizio Drago, Francesca Romana Lepri, Silvia Morlino
المصدر: American Journal of Medical Genetics Part A. 179:104-112
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, Marfan syndrome, Systemic disease, Pathology, medicine.medical_specialty, Roma, Adolescent, Iris, 030105 genetics & heredity, Ectopia Lentis, Corneal Diseases, Marfan Syndrome, 03 medical and health sciences, Megalocornea, Transforming Growth Factor beta, Genetics, medicine, Humans, Child, Ectopia lentis, Genetics (clinical), business.industry, Homozygote, Tall Stature, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, Heart, medicine.disease, eye diseases, Phenotype, 030104 developmental biology, Microspherophakia, Latent TGF-beta Binding Proteins, Great arteries, Dysplasia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc3fde4d9ce72fe82633905b3b9db9fTest
https://doi.org/10.1002/ajmg.a.10Test -
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المؤلفون: Gebril Oh, Cheong Ss, Abdelraouf Er, Elsaied M, Eid, Hardcastle Aj
المصدر: Journal of Neurology, Neurological Science and Disorders. 3:028-032
مصطلحات موضوعية: Genetics, Megalocornea, Feature (computer vision), medicine, Biology, medicine.disease, Megalocornea-Mental Retardation Syndrome, digestive system diseases, Sequence (medicine)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cfb8e9c19f469ff3c624f1bd0cd9fce4Test
https://doi.org/10.17352/jnnsd.000017Test -
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المؤلفون: Petra Liskova
المصدر: Acta Ophthalmologica. 97
مصطلحات موضوعية: Genetics, Czech, Ophthalmology, Megalocornea, business.industry, language, medicine, General Medicine, Disease, medicine.disease, business, language.human_language
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c20cd5437a72a4d0499e020a67881965Test
https://doi.org/10.1111/j.1755-3768.2019.8026Test -
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المؤلفون: Kristina Vollbach, Sonja Trepels-Kottek, Norbert Wagner, Miriam Elbracht, Ingo Kurth, Thorsten Orlikowsky, Klaus Tenbrock, Till Braunschweig
المصدر: European Journal of Medical Genetics. 64:104209
مصطلحات موضوعية: Male, Alveolar capillary dysplasia, medicine.medical_specialty, medicine.medical_treatment, Persistent Fetal Circulation Syndrome, Pulmonary heart disease, Megalocornea, Pulmonary Heart Disease, Internal medicine, Genetics, medicine, Humans, Ectopia lentis, Genetics (clinical), Mechanical ventilation, business.industry, Macrocephaly, Infant, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, General Medicine, medicine.disease, Pathophysiology, Pulmonary Alveoli, Phenotype, Latent TGF-beta Binding Proteins, Respiratory failure, Pulmonary Veins, Cardiology, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03aaba02c9691226e6b8a3549ee96790Test
https://doi.org/10.1016/j.ejmg.2021.104209Test -
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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 -
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المصدر: Ophthalmic Genetics. 34:14-20
مصطلحات موضوعية: Male, genetic structures, CYP1B1, DNA Mutational Analysis, Locus (genetics), macromolecular substances, Biology, Bioinformatics, Polymerase Chain Reaction, Consanguinity, Megalocornea, Exon, medicine, Humans, Missense mutation, Ectopia lentis, Intraocular Pressure, Genetics (clinical), Genetics, fungi, Hydrophthalmos, Infant, Newborn, Marfanoid, Infant, Sequence Analysis, DNA, medicine.disease, Pedigree, body regions, Ophthalmology, Buphthalmos, Latent TGF-beta Binding Proteins, Child, Preschool, Cytochrome P-450 CYP1B1, Mutation, Pediatrics, Perinatology and Child Health, Female, Aryl Hydrocarbon Hydroxylases, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0eaefb4d236797239b1100535bf7a1Test
https://doi.org/10.3109/13816810.2012.716486Test -
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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 -
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المؤلفون: Marcin Zaniew, Małgorzata Krajewska-Walasek, Franca Anglani, Krzysztof Pawlaczyk, Anna Niemirska, Maria Addis, Przemysław Sikora, Guido F. Laube, Maria Szczepańska, Florian Recker, Detlef Bockenhauer, Sidharth Kumar Sethi, Valerie Said-Conti, Anna Moczulska, Grzegorz Siteń, Anna Rogowska-Kalisz, Arend Bökenkamp, Belde Kasap-Demir, Nunzia Miglietti, Velibor Tasic, Michael Ludwig, Anna Wasilewska, Mieczysław Litwin, Krystyna H. Chrzanowska
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Pediatric Nephrology, 30(6), 931-943. Springer Verlag
Recker, F, Zaniew, M, Bockenhauer, D, Miglietti, N, Bokenkamp, A, Moczulska, A, Rogowska-Kalisz, A, Laube, G, Said-Conti, V, Kasap-Demir, B, Niemirska, A, Litwin, M, Siten, G, Chrzanowska, K H, Krajewska-Walasek, M, Sethi, S K, Tasic, V, Anglani, F, Addis, M, Wasilewska, A, Szczepanska, M, Pawlaczyk, K, Sikora, P & Ludwig, M 2015, ' Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome ', Pediatric Nephrology, vol. 30, no. 6, pp. 931-943 . https://doi.org/10.1007/s00467-014-3013-2Testمصطلحات موضوعية: Male, Heterozygote, Heredity, Time Factors, Adolescent, Oculocerebrorenal syndrome, DNA Mutational Analysis, India, Dent Disease, Cataract, Megalocornea, Chromosome Breakpoints, Young Adult, Predictive Value of Tests, Prevalence, Medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, Child, Genetics, business.industry, Cilium, Infant, medicine.disease, Hyperosmia, Phenotype, Thrombocytopenia, Phosphoric Monoester Hydrolases, Pedigree, Europe, Hyperacusis, Oculocerebrorenal Syndrome, Nephrology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Disease Progression, OCRL, CpG Islands, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb46b963790067899f052a3ba0a78c1fTest
https://pubmed.ncbi.nlm.nih.gov/25480730Test -
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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 -
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المؤلفون: D Meyers, Susan Ewart, J Xu, DT Ramsey
المصدر: Journal of Heredity. 91:93-98
مصطلحات موضوعية: Male, Heterozygote, Lineage (genetic), Biology, Megalocornea, Dysgenesis, Ciliary body, Genetics, Homologous chromosome, medicine, Animals, Cyst, Horses, Aniridia, Molecular Biology, Genetics (clinical), Genes, Dominant, Homozygote, Anatomy, medicine.disease, Phenotype, Hypoplasia, Pedigree, medicine.anatomical_structure, Female, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ccb7fa11065f91ddffca2a04faefb5Test
https://doi.org/10.1093/jhered/91.2.93Test