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1
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 -
2
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