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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: Anne-Sophie Guilbert, Charlie De Melo, Elise Schaefer, Benjamin Durand, Hélène Dollfus, Corinne Stoetzel, Nadège Calmels, Leonardo Donato, Dana Timbolschi, Nadine Kempf, Sophie Scheidecker, Dominique Astruc, Arnaud Sauer, Maria Cristina Antal, Salima El Chehadeh
المساهمون: Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Dynamique des interactions hôte pathogène (DIHP), Université de Strasbourg (UNISTRA), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2020, 63 (4), pp.103857. ⟨10.1016/j.ejmg.2020.103857⟩مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Pathology, medicine.medical_specialty, Developmental Disabilities, Glaucoma, 030105 genetics & heredity, Osteochondrodysplasias, Craniofacial Abnormalities, 03 medical and health sciences, Camptodactyly, Megalocornea, Frank–ter Haar syndrome, Genetics, Medicine, Humans, Abnormalities, Multiple, Craniofacial, Genetics (clinical), Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Hypotonia, Buphthalmos, 030104 developmental biology, Phenotype, Invadopodia, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6b76b85cfc1da9251056eb027ad583fTest
https://hal.science/hal-03806708Test -
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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: 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: Yusuf Ozkul, Sener Tasdemir, Mustafa Akcakus, Cetin Saatci, Ahmet Okay Caglayan, Munis Dundar
المصدر: European Journal of Medical Genetics. 52:247-249
مصطلحات موضوعية: Heart Defects, Congenital, Male, Prominent forehead, Craniofacial abnormality, Haar, Genes, Recessive, Osteochondrodysplasias, Craniofacial Abnormalities, Megalocornea, Fatal Outcome, Frank–ter Haar syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Genetics (clinical), Hand deformity, business.industry, Infant, Syndrome, General Medicine, Anatomy, medicine.disease, body regions, medicine.symptom, business, Hand Deformities, Congenital, human activities, Brachycephaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb32908484790924bbb6c6227141681Test
https://doi.org/10.1016/j.ejmg.2009.03.005Test -
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المؤلفون: Kristiina Avela, Olavi Pärssinen, Maria Huttunen, Reija Alen
المصدر: European journal of medical genetics. 52(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Eye disease, Infant, Nucleic Acid Hybridization, General Medicine, Syndrome, medicine.disease, Dermatology, Magnetic Resonance Imaging, Cornea, Megalocornea, Urticaria Pigmentosa, Karyotyping, Genetics, medicine, Etiology, Urticaria pigmentosa, Humans, Dysmorphic facial features, business, Genetics (clinical), Pigmentation disorder, Corneal disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1202316e1893df31266c946f032db399Test
https://pubmed.ncbi.nlm.nih.gov/19706342Test -
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المؤلفون: L Zergollern, Ingeborg Barišić, I Ligutić
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Short stature, Cornea, Megalocornea, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, megalocornea, mental retardation, Neu-häuser syndrome, Genetics (clinical), business.industry, medicine.disease, Megalocornea-Mental Retardation Syndrome, Hypotonia, MMR SYNDROME, Endocrinology, Child, Preschool, Female, Motor retardation, medicine.symptom, Neuhauser syndrome, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1612a9c0cd097babd0a0fba3fb8288cTest
https://europepmc.org/articles/PMC1050773Test/ -
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المؤلفون: Doaa I. Sadik, Rabah M. Shawky, Neveen S. Seifeldin
المصدر: Egyptian Journal of Medical Human Genetics; Vol 11, No 2 (2010)
مصطلحات موضوعية: Genetics, Ectodermal dysplasia, Polydactyly, genetic structures, business.industry, Anatomy, medicine.disease, High forehead, Variable Expression, Autosomal recessive trait, Megalocornea, Dysplasia, Cardiovascular malformations, medicine, Genetics(clinical), Chondroectodermal dysplasia, business, Ellis–van Creveld syndrome, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a0ca6380f6283ac51c959deed16bb9Test
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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