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1
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: 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: 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