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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 geneticsمصطلحات 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 -
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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: Der Kaloustian Vm, Koenekoop Rk, Dubé P, S. Demczuk, Saabti H
المصدر: Ophthalmic Genetics. 21:211-216
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Retinal coloboma, DNA Mutational Analysis, Trigonocephaly, Biology, Retina, Congenital hydrocephalus, Cornea, Megalocornea, Ophthalmology, Cryptorchidism, medicine, Humans, Deletion syndrome, Abnormalities, Multiple, Global developmental delay, In Situ Hybridization, Fluorescence, Genetics (clinical), Genetics, Infant, Syndrome, medicine.disease, Oculocutaneous albinism, Coloboma, Albinism, Oculocutaneous, Karyotyping, Pediatrics, Perinatology and Child Health, Albinism, Chromosomes, Human, Pair 9, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31d92bdfa0c25d50b1cc11531a922e5Test
https://doi.org/10.1076/1381-6810Test(200012)2141-hft211 -
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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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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