المؤلفون: D Meyers, Susan Ewart, J Xu, DT Ramsey

المصدر: Journal of Heredity. 91:93-98

مصطلحات موضوعية: Male, Heterozygote, Lineage (genetic), Biology, Megalocornea, Dysgenesis, Ciliary body, Genetics, Homologous chromosome, medicine, Animals, Cyst, Horses, Aniridia, Molecular Biology, Genetics (clinical), Genes, Dominant, Homozygote, Anatomy, medicine.disease, Phenotype, Hypoplasia, Pedigree, medicine.anatomical_structure, Female, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ccb7fa11065f91ddffca2a04faefb5Test
https://doi.org/10.1093/jhered/91.2.93Test

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

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

المؤلفون: Michael O'Keefe, J. P. Burke

المصدر: Acta Ophthalmologica. 66:731-733

مصطلحات موضوعية: Male, medicine.medical_specialty, Congenital glaucoma, Pathology, genetic structures, Enucleation, Glaucoma, Cornea, Megalocornea, medicine, Humans, Hyperplasia, Autosomal recessive inheritance, business.industry, Infant, General Medicine, medicine.disease, eye diseases, Vitreous Body, Ophthalmology, Buphthalmos, Persistent hyperplastic primary vitreous, Histopathology, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c777c6e2b698b5d81020afda56b82a0bTest
https://doi.org/10.1111/j.1755-3768.1988.tb04072.xTest

المؤلفون: C T Pillai, Harminder S Dua, Augusto Azuara-Blanco

المصدر: Journal of Cataract and Refractive Surgery. 25:716-719

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Eye disease, medicine.medical_treatment, Visual Acuity, Iris, Anterior megalophthalmos, Intraocular lens, Cataract Extraction, Refraction, Ocular, Cataract, Cataract extraction, Megalocornea, Lens Implantation, Intraocular, Ophthalmology, medicine, Humans, In patient, Iris (anatomy), business.industry, Hydrophthalmos, equipment and supplies, medicine.disease, eye diseases, Sensory Systems, Surgery, medicine.anatomical_structure, Lens (anatomy), sense organs, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fefc822f74892f294112148fc4f99acfTest
https://doi.org/10.1016/s0886-3350Test(99)00024-3

المؤلفون: Hikmet Basmak, Nilgun Yildirim, Bilal Yildiz, Coskun Yarar, Ayten Yakut

المصدر: Clinical Dysmorphology. 15:249-251

مصطلحات موضوعية: Heart Defects, Congenital, Male, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Epicanthus, Atrial septal defects, Pathology and Forensic Medicine, Cornea, Craniofacial Abnormalities, Megalocornea, Intellectual Disability, Ductus arteriosus, Humans, Medicine, Abnormalities, Multiple, Genetics (clinical), business.industry, Infant, Syndrome, General Medicine, Anatomy, medicine.disease, Hypotonia, Undescended testicle, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, medicine.symptom, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a09a42a8edafc2ffd8d0ee327366d65Test
https://doi.org/10.1097/01.mcd.0000228421.59166.82Test

المؤلفون: Yonca A. Akova, Aysel Pelit

المصدر: International Ophthalmology. 26:49-51

مصطلحات موضوعية: Adult, Miosis, medicine.medical_specialty, Time Factors, genetic structures, Lens luxation, Fundus (eye), Marfan Syndrome, Diagnosis, Differential, Megalocornea, Humans, Medicine, Iridodonesis, Ultrasonography, S syndrome, business.industry, Lens Subluxation, medicine.disease, eye diseases, Surgery, Vitreous Body, Ophthalmology, medicine.anatomical_structure, Lens (anatomy), Female, Posterior dislocation, sense organs, medicine.symptom, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f193b91106a5295ab7e3afd683276c8Test
https://doi.org/10.1007/s10792-006-0003-9Test

المؤلفون: Fernanda Scremin, Roberto von Hertwig, Oscar Ewald, Fábio Busch

المصدر: Arquivos Brasileiros de Oftalmologia, Vol 69, Iss 1, Pp 97-99 (2006)

مصطلحات موضوعية: Intraocular pressure, Manifestações oculares, Relatos de casos, Visual acuity, genetic structures, business.industry, Paleness, Glaucoma, Optic papilla, General Medicine, Anatomy, RE1-994, medicine.disease, eye diseases, Ophthalmology, Megalocornea, Malformações do sistema nervoso, Rare case, medicine, sense organs, medicine.symptom, business, Síndrome de Dandy-Walker

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6d903ad6589f5f784476e79c08e5b0Test
https://doi.org/10.1590/s0004-27492006000100018Test

المؤلفون: Bastola, P

المصدر: Nepal Journal of Medical Sciences; Vol. 1 No. 2 (2012); 132-134 ; 2091-1459 ; 2091-1424

مصطلحات موضوعية: Marfan syndrome, megalocornea, subluxation of lens, fibrillin gene

وصف الملف: application/pdf

العلاقة: https://www.nepjol.info/index.php/NJMS/article/view/6614/5403Test; https://www.nepjol.info/index.php/NJMS/article/view/6614Test

الإتاحة: https://www.nepjol.info/index.php/NJMS/article/view/6614Test

المؤلفون: Sachith Mettananda, K S H de Silva, Jithangi Wanigasinghe, S. Gunethilake

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, Congenital glaucoma, genetic structures, business.industry, Oculocerebrorenal syndrome, Infant, General Medicine, Anatomy, medicine.disease, eye diseases, Hypotonia, Anterior fontanelle, Tendon, Left eye, Megalocornea, medicine.anatomical_structure, Oculocerebrorenal Syndrome, Subcutaneous Tissue, medicine, Humans, sense organs, medicine.symptom, business, Subcutaneous tissue

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e53097c423bff20e350c2fedec7d1a1fTest
https://pubmed.ncbi.nlm.nih.gov/23549725Test