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المؤلفون: Anna M. Waldie, Nicholas S. Little, Matti L Gild, Oliver Lau, Roderick J. Clifton-Bligh, James E. H. Smith, Mark Thieben, Janice Brewer
المصدر: Neuroophthalmology
مصطلحات موضوعية: Pituitary gland, Pathology, medicine.medical_specialty, Palsy, genetic structures, business.industry, Hypophysitis, Neuroendocrine disorder, Autoimmune inflammation, Case Reports, Hypopituitarism, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, medicine.anatomical_structure, 030221 ophthalmology & optometry, Autoimmune hypophysitis, Medicine, Neurology (clinical), business, Abducens nerve, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::932694347c33044f398a68ad00c5f844Test
https://doi.org/10.1080/01658107.2018.1561721Test -
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المؤلفون: Mark Y. Chiang, Glen A. Gole, Jamie E Craig, Lachlan S.W. Knight, Faren Willett, David A. Mackey, James E. H. Smith, Ayub Qassim, James Breen, Sandra E Staffieri, Guy D’Mellow, James E. Elder, Sean Mullany, Andrea L Vincent, Jonathan B Ruddle, Ivan Goldberg, Owen M. Siggs, Lisa S. Kearns, Susie Luu, Emmanuelle Souzeau, Deepa A Taranath
المصدر: Ophthalmology. 128(11)
مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, genetic structures, Adolescent, Genotype, Genetic counseling, CYP1B1, Glaucoma, Disease registry, medicine, Humans, Genetic Testing, Registries, Child, Eye Proteins, Intraocular Pressure, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Australia, Infant, Newborn, Infant, Genetic Profile, medicine.disease, eye diseases, Pedigree, Ophthalmology, Phenotype, Child, Preschool, Cohort, Mutation, Female, sense organs, business, New Zealand
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::942b8b5c884f66f28a4351a36e2c604eTest
https://pubmed.ncbi.nlm.nih.gov/33892047Test -
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المؤلفون: Paul Giles, Emmanuelle Souzeau, Andrew Dubowsky, Lisa S. Kearns, Richard A. Mills, Jamie E Craig, Alex W. Hewitt, Trevor Hodson, Sandra E Staffieri, James E. H. Smith, Vivek Phakey, John Landers, James E. Elder, Owen M. Siggs, Tiger Zhou, Deepa A Taranath, Anna Galanopoulos, Jonathan B Ruddle, Kathryn P. Burdon, Julian L Rait, David A. Mackey, John Pater
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, genetic structures, Genetic counseling, Glaucoma, Penetrance, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Prevalence, Genetics, medicine, Humans, Copy-number variation, 10. No inequality, Genetics (clinical), Aged, Genetic testing, Homeodomain Proteins, medicine.diagnostic_test, Genetic heterogeneity, Age Factors, Forkhead Transcription Factors, Middle Aged, medicine.disease, eye diseases, Genetic architecture, Pedigree, 3. Good health, stomatognathic diseases, 030104 developmental biology, Cohort, 030221 ophthalmology & optometry, Female, sense organs, Corrigendum, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301542206ed9e5e37dd8a06e9276aa86Test
https://doi.org/10.1038/ejhg.2017.59Test -
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المؤلفون: Clare L. Fraser, Frank A. Billson, Frank Martin, Anson Cheng, David Mowat, Bruce Bennetts, Robyn V. Jamieson, John R. Grigg, Katherine Holman, Alan Ma, Maree Flaherty, Elizabeth Farnsworth, Gladys Ho, James E. H. Smith, John Christodoulou, Ivan Prokudin
المصدر: Human Mutation
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, PAX6 Transcription Factor, genetic structures, DNA Mutational Analysis, Inheritance Patterns, next‐generation sequencing, medicine.disease_cause, Microphthalmia, Connexins, Genes, X-Linked, Exome, Child, Research Articles, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Nuclear Proteins, eye, Pedigree, Microcornea, Phenotype, Child, Preschool, Proto-Oncogene Proteins c-maf, Congenital cataracts, Female, Research Article, Biology, Cataract, 03 medical and health sciences, Dysgenesis, Proto-Oncogene Proteins, medicine, Humans, microcornea, Amino Acid Sequence, Sclerocornea, Alleles, Genetic Association Studies, Genetic heterogeneity, Computational Biology, Membrane Proteins, medicine.disease, Crystallins, eye diseases, Repressor Proteins, 030104 developmental biology, congenital cataract, microphthalmia, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e83471a6bb0c48f6587fd36e72631b1Test
https://doi.org/10.1002/humu.22948Test -
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المؤلفون: Chu Luan Nguyen, James E. H. Smith, Noni Lewis, Khoi Tran, Tony S. Chen
المصدر: Case Reports in Ophthalmological Medicine
Case Reports in Ophthalmological Medicine, Vol 2018 (2018)مصطلحات موضوعية: medicine.medical_specialty, Triamcinolone acetonide, Photophobia, Bevacizumab, genetic structures, Corneal Infiltrates, Meibomian gland, Case Report, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, Ophthalmology, medicine, Blepharitis, business.industry, General Medicine, medicine.disease, eye diseases, Frequent blinking, medicine.anatomical_structure, lcsh:RE1-994, Corneal neovascularization, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044614c88d48270eb0d5a13fd4a09410Test
http://europepmc.org/articles/PMC6008772Test -
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المؤلفون: James E. H. Smith, Angela J Chappell, Tiger Zhou, Kathryn P. Burdon, James E. Elder, Owen M. Siggs, Lisa S. Kearns, Shari Javadiyan, Jonathan B Ruddle, John Pater, David A. Mackey, Sandra E Staffieri, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Andrew Dubowsky, Jamie E Craig, Emmanuelle Souzeau
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Congenital glaucoma, Intraocular pressure, genetic structures, business.industry, 030305 genetics & heredity, Glaucoma, Disease, medicine.disease, Compound heterozygosity, eye diseases, 03 medical and health sciences, Dysgenesis, Ophthalmology, medicine, sense organs, Ectopia lentis, business, Exome sequencing, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50d008ff1aaacf7efb07832171d0ab4Test
https://doi.org/10.1101/297077Test -
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المؤلفون: Kathryn P. Burdon, Sandra E Staffieri, David A. Mackey, John Pater, Lisa A Kearns, Jonathan B Ruddle, Alessandra Del Longo, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Angela J Chappell, Lucia Mauri, Owen M. Siggs, James E. Elder, Julian L Rait, Andrew Dubowsky, Francesca Pasutto, James E. H. Smith, Jamie E Craig, André Reis, Emmanuelle Souzeau
المصدر: JAMA Ophthalmology. 137:348
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, CYP1B1, Glaucoma, 01 natural sciences, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Prevalence, medicine, Humans, 0101 mathematics, Young adult, Child, Exome sequencing, business.industry, Genetic heterogeneity, 010102 general mathematics, Australia, Forkhead Transcription Factors, medicine.disease, eye diseases, Ophthalmology, Clinical research, Cohort, 030221 ophthalmology & optometry, Female, sense organs, business, New Zealand
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c8d41ee991e28dc1a444908298885Test
https://doi.org/10.1001/jamaophthalmol.2018.5646Test -
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المؤلفون: Maree Flaherty, John R. Grigg, Vikrant Kumar, Cas Simons, James E. H. Smith, Rebecca Storen, Sonia Davila, Ivan Prokudin, Zai Y Phua, Robyn V. Jamieson
المصدر: European Journal of Human Genetics. 22:907-915
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, PAX6 Transcription Factor, DNA Mutational Analysis, Penetrance, Biology, Bioinformatics, Microphthalmia, Article, Connexins, Growth Differentiation Factor 3, Genetics, medicine, Humans, Paired Box Transcription Factors, Exome, gamma-Crystallins, Eye Proteins, Genetics (clinical), Exome sequencing, Homeodomain Proteins, Coloboma, Anophthalmia, Genetic heterogeneity, Eye Diseases, Hereditary, medicine.disease, eye diseases, Pedigree, Repressor Proteins, Cytochrome P-450 CYP1B1, Mutation, ATP-Binding Cassette Transporters, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eccbb548bd9a3524b8baaf6532da0d53Test
https://doi.org/10.1038/ejhg.2013.268Test -
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المؤلفون: Ordan J. Lehmann, Ella Onikul, Luke St Heaps, James E. H. Smith, Rebecca Williams, Nicole Chia, Kenneth N. Maclean, Tim McCrossin, Gregory Peters, Lesley C. Adès
المصدر: American Journal of Medical Genetics Part A. :381-385
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Hearing loss, Biology, Corpus callosum, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Cerebellar hypoplasia, Genetics (clinical), Tooth Abnormalities, Infant, Syndrome, Microdeletion syndrome, medicine.disease, Phenotype, eye diseases, Hypoplasia, Chromosome Banding, Hydrocephalus, Face, Karyotyping, Chromosomes, Human, Pair 6, sense organs, Brainstem, Chromosome Deletion, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03743039cae58931628e7b5d1ee18f0cTest
https://doi.org/10.1002/ajmg.a.30274Test -
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المؤلفون: Robyn V. Jamieson, James E. H. Smith, Jeremy Smith, Frank Martin, Simon E. Skalicky, Michael P. Jones, John R. Grigg, Andrew White, Craig Donaldson, Maree Flaherty
المصدر: JAMA ophthalmology. 131(12)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Inheritance Patterns, Microphthalmia, Cataract, Ocular Motility Disorders, Anterior Eye Segment, Ophthalmology, Anophthalmos, medicine, Humans, Microphthalmos, Child, Retrospective Studies, Coloboma, Anophthalmia, business.industry, Infant, Newborn, Infant, medicine.disease, eye diseases, Surgery, Child, Preschool, Etiology, Female, sense organs, Abnormality, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea056d1bd47141a020e5e48434cca879Test
https://pubmed.ncbi.nlm.nih.gov/24177921Test