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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: 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 -
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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