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1دورية أكاديمية
المؤلفون: Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
مصطلحات موضوعية: CTNNB1, Beta-catenin, Recessive, Syndromic, Microphthalmia, Vitreoretinal dysplasia, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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المؤلفون: Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie M. Ellingford, Christopher Campbell, Stuart Ingram, Kate Chandler, Neil R. A. Parry, Graeme C. Black, Panagiotis I. Sergouniotis
المصدر: Acta Ophthalmologica. 100
مصطلحات موضوعية: Chromosomes, Human, Pair 15, TRPM Cation Channels, Chromosome Disorders, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Pedigree, Ophthalmology, Night Blindness, Seizures, Intellectual Disability, Mutation, Electroretinography, Myopia, Humans, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c39454a873ee1d305b8b0a9d76cc56Test
https://doi.org/10.1111/aos.15186Test -
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المؤلفون: Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black
المصدر: Taylor, R L, Soriano, C S, Williams, S, Dzulova, D, Ashworth, J, Hall, G, Gale, T, Lloyd, I C, Inglehearn, C F, Toomes, C, Douzgou, S & Black, G 2022, ' Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia ', Orphanet Journal of Rare Diseases, vol. 17, 110 . https://doi.org/10.1186/s13023-022-02239-3Test
مصطلحات موضوعية: Mutation, Exome Sequencing, Microcephaly, Humans, Microphthalmos, Pharmacology (medical), General Medicine, Genetics (clinical), beta Catenin, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d16d6283569395b93e1ca9f8bd5bae6eTest
https://pubmed.ncbi.nlm.nih.gov/35246174Test -
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المؤلفون: Jamie M, Ellingford, Stephanie, Barton, Sanjeev, Bhaskar, James, O'Sullivan, Simon G, Williams, Janine A, Lamb, Binay, Panda, Panagiotis I, Sergouniotis, Rachel L, Gillespie, Stephen P, Daiger, Georgina, Hall, Theodora, Gale, I Christopher, Lloyd, Paul N, Bishop, Simon C, Ramsden, Graeme C M, Black
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: retinitis pigmentosa, parasitic diseases, Genotype-Phenotype Correlations, next-generation sequencing, Molecular genetics, bioinformatics, inherited retinal dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d0c629df9fc5ab51beb99c3f85212433Test
https://pubmed.ncbi.nlm.nih.gov/27208204Test -
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المؤلفون: Sunil R. Lakhani, Jorge S. Reis-Filho, Peter T. Simpson, Theodora Gale
المصدر: The Journal of Pathology. 205:248-254
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Molecular pathology, Carcinoma in situ, Anatomical pathology, Ductal carcinoma, Biology, Hyperplasia, medicine.disease, Pathology and Forensic Medicine, Breast cancer, Progesterone receptor, medicine, Carcinoma, skin and connective tissue diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8005db24ef60d200a90a779db4143caTest
https://doi.org/10.1002/path.1691Test -
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المؤلفون: Georgina Hall, Theodora Gale, Lauren Kerzin-Storrar, Rhona MacLeod, Sara Pasalodos-Sanchez
المصدر: Journal of genetic counseling. 19(1)
مصطلحات موضوعية: Recall, Constant comparison, Reflective practice, Genetic counseling, Inheritance (genetic algorithm), Genetic Diseases, Inborn, Videotape Recording, Genetic Counseling, Genetic Diseases, X-Linked, Developmental psychology, symbols.namesake, Mendelian inheritance, symbols, Humans, Psychology, Referral and Consultation, Genetics (clinical), Qualitative research, Patient education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f67e371ac0039dd47dc468f96389e656Test
https://pubmed.ncbi.nlm.nih.gov/20049518Test -
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المؤلفون: Jorge S. Reis-Filho, Peter T. Simpson, Theodora Gale, Sunil R. Lakhani
المساهمون: Universidade do Minho
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: medicine.medical_specialty, Pathology, Genotype, Medicina Básica [Ciências Médicas], Breast Neoplasms, Biology, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Molecular genetics, medicine, Humans, Breast, skin and connective tissue diseases, DNA copy number changes, neoplasms, 030304 developmental biology, 0303 health sciences, Comparative genomic hybridization, Hyperplasia, Science & Technology, Molecular pathology, Carcinoma in situ, Carcinoma, Ductal, Breast, Loss of heterozygosity, Chromosome Mapping, Nucleic Acid Hybridization, Cell Biology, DNA, Neoplasm, Ductal carcinoma, medicine.disease, 3. Good health, Carcinoma, Intraductal, Noninfiltrating, Phenotype, 030220 oncology & carcinogenesis, Ciências Médicas::Medicina Básica, Cancer research, Carcinogenesis, Carcinoma in Situ
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e644414554c86b9e1369850484e519f8Test
https://hdl.handle.net/1822/67922Test -
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المصدر: The Journal of pathology. 205(2)
مصطلحات موضوعية: Carcinoma, Intraductal, Noninfiltrating, Disease Progression, Humans, Breast Neoplasms, Female, Neoplasm Invasiveness, Precancerous Conditions
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::cf8c0893e0cf1d380c18dae01f67453bTest
https://pubmed.ncbi.nlm.nih.gov/15641021Test -
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المؤلفون: Dawn Steele, Mario Budroni, Suzanne Parry, Sunil R. Lakhani, Chris Jones, Theodora Gale, Jorge S. Reis-Filho, Antonio Cossu, Peter T. Simpson, Giuseppe Palmieri
المصدر: Journal of pathology
202 (2004): 274–285. doi:10.1002/path.1530
info:cnr-pdr/source/autori:Simpson, PT; Gale, T; Reis, JS; Jones, C; Parry, S; Steele, D; Cossu, A; Budroni, M; Palmieri, G; Lakhani, SR/titolo:Distribution and significance of 14-3-3 sigma, a novel myoepithelial marker, in normal, benign, and malignant breast tissue/doi:10.1002%2Fpath.1530/rivista:Journal of pathology (Print)/anno:2004/pagina_da:274/pagina_a:285/intervallo_pagine:274–285/volume:202مصطلحات موضوعية: Exonucleases, Pathology, medicine.medical_specialty, Cytoplasm, Stromal cell, Mammary gland, Breast Neoplasms, Biology, myoepithelial cells, Myoepithelioma, Pathology and Forensic Medicine, Breast Diseases, breast cancer, Breast cancer, myoepithelial carcinoma, medicine, Biomarkers, Tumor, Humans, 14-3-3 sigma, Proportional Hazards Models, Cell Nucleus, Tissue microarray, Chi-Square Distribution, Carcinoma, Ductal, Breast, Myoepithelial cell, Anatomical pathology, Ductal carcinoma, medicine.disease, Immunohistochemistry, Survival Analysis, Neoplasm Proteins, Carcinoma, Ductal, Carcinoma, Lobular, medicine.anatomical_structure, 14-3-3 Proteins, Exoribonucleases, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9be980185cc535ea3e7d07b40eed3bTest
https://pubmed.ncbi.nlm.nih.gov/14991892Test -
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المصدر: Breast Cancer Research : BCR
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lobular carcinoma, Breast Neoplasms, Review, atypical lobular hyperplasia, Diagnosis, Differential, breast cancer, Breast cancer, Surgical oncology, medicine, Carcinoma, Humans, Neoplasm Invasiveness, skin and connective tissue diseases, lobular carcinoma in situ, Hyperplasia, Molecular pathology, business.industry, precursor lesion, medicine.disease, body regions, Carcinoma, Lobular, Female, Breast disease, lobular neoplasia, business, Precancerous Conditions, Carcinoma in Situ, Lobular Neoplasia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eefe6e353d97c54751ee715c77bc9f95Test
https://doi.org/10.1186/bcr624Test
النص الكامل