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المؤلفون: Eranga N. Vithana, Jambulingam Arunkumar, Tin Aung, Donald T.H. Tan, Boomiraj Hemadevi, Muthaiah Srinivasan, Jodhbir S. Mehta, Periasamy Sundaresan, Venkatesh N Prajna
المصدر: Cornea. 29:302-306
مصطلحات موضوعية: Male, medicine.medical_specialty, Intraocular pressure, Visual acuity, Adolescent, Genotype, genetic structures, Hearing loss, Hearing Loss, Sensorineural, Anion Transport Proteins, Physical examination, Gene mutation, Antiporters, Young Adult, Audiometry, Ophthalmology, medicine, Humans, Family history, Child, Retrospective Studies, Corneal Dystrophies, Hereditary, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Endothelium, Corneal, medicine.disease, eye diseases, Pedigree, Phenotype, Child, Preschool, Mutation, Female, sense organs, medicine.symptom, Congenital hereditary endothelial dystrophy, business, Keratoplasty, Penetrating
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9953ef888b7c7edc8e27db38380a50e4
https://doi.org/10.1097/ico.0b013e3181ae9038 -
2دورية أكاديمية
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المؤلفون: Jambulingam Arunkumar, Boomiraj Hemadevi, Namperumalsamy Venkatesh Prajna, Muthiah Srinivasan, Periasamy Sundaresan
المصدر: BMC Ophthalmology, Vol 10, Iss 1, p 3 (2010)
BMC Ophthalmologyمصطلحات موضوعية: Adult, Male, Genotype, Fuchs Endothelial Dystrophy, Anion Transport Proteins, Molecular Sequence Data, India, Collagen Type VIII, medicine.disease_cause, Genetic analysis, Antiporters, lcsh:Ophthalmology, Genetic variation, Research article, medicine, Humans, Genetic Testing, Gene, Genetic testing, Genetics, Mutation, medicine.diagnostic_test, Base Sequence, business.industry, Fuchs' Endothelial Dystrophy, Genetic Variation, General Medicine, Exact test, Ophthalmology, lcsh:RE1-994, Female, business
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المؤلفون: Myint Khine, Donald T.H. Tan, Khin O Khine, Muthiah Srinivasan, Chris F. Inglehearn, Moin D. Mohamed, Victor H. K. Yong, Venkatesh N Prajna, Periasamy Sundaresan, Neil D. Ebenezer, Boomiraj Hemadevi, Tin Aung, Anandalakshmi Venkatraman, Patricio E. Morgan, Joseph R. Casey, Ke Guo, Eranga N. Vithana, Seema Anand, Manuel Salto-Tellez, Divya Venkataraman
المصدر: Nature genetics. 38(7)
مصطلحات موضوعية: Male, genetic structures, Endothelium, Anion Transport Proteins, Corneal dystrophy, Genes, Recessive, Biology, medicine.disease_cause, Antiporters, Borates, Genetics, medicine, Humans, Point Mutation, Gene, Loss function, Corneal Dystrophies, Hereditary, Mutation, Fuchs' Endothelial Dystrophy, Dystrophy, medicine.disease, Molecular biology, eye diseases, medicine.anatomical_structure, Amino Acid Substitution, Cancer research, Female, sense organs, Congenital hereditary endothelial dystrophy, Cotransporter
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المؤلفون: Namperumalsamy Venkatesh Prajna, Reiner A. Veitia, Jambulingam Arunkumar, Boomiraj Hemadevi, Corinne Lesaffre, Muthiah Srinivasan, Periasamy Sundaresan
المصدر: Archives of Ophthalmology. 126:700
مصطلحات موضوعية: Adult, Male, Adolescent, Anion Transport Proteins, DNA Mutational Analysis, Molecular Sequence Data, India, Genes, Recessive, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Antiporters, Consanguinity, Exon, Genetic linkage, medicine, Humans, Amino Acid Sequence, Expressivity (genetics), Child, Promoter Regions, Genetic, Gene, Corneal Dystrophies, Hereditary, Genetics, Mutation, Endothelium, Corneal, Dystrophy, Exons, medicine.disease, Pedigree, Ophthalmology, Child, Preschool, Female, Congenital hereditary endothelial dystrophy, Polymorphism, Restriction Fragment Length
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ff2d344669b316911cc5fa5cfd4d26
https://doi.org/10.1001/archopht.126.5.700 -
6دورية أكاديمية
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تسجيل الدخول للوصول الكامل.