المؤلفون: Anna Bas, Sten Hammarström, Olle Hernell, Marie-Louise Hammarström, Göte Forsberg, Veronika Sjöberg

المصدر: Gut

مصطلحات موضوعية: Male, Adolescent, T cell, Genes, RAG-1, Receptors, Antigen, T-Cell, alpha-beta, T-Lymphocytes, chemical and pharmacologic phenomena, Coeliac Disease, Biology, digestive system, Coeliac disease, Young Adult, Intestinal mucosa, Risk Factors, Immunopathology, Intestine, Small, medicine, Humans, Enteropathy, RNA, Messenger, Intestinal Mucosa, Receptor, Child, Analysis of Variance, Membrane Glycoproteins, Gastroenterology, nutritional and metabolic diseases, Infant, hemic and immune systems, Gene rearrangement, medicine.disease, digestive system diseases, Small intestine, Alternative Splicing, Celiac Disease, medicine.anatomical_structure, Case-Control Studies, Child, Preschool, Immunology, Female, Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor, tissues

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c919b764cfc7bb9b262477911b9e0c37Test
http://europepmc.org/articles/PMC2613440Test

المؤلفون: Thierry Voet, Koen Devriendt, Joris Vermeesch, Boyan Dimitrov, Philippe Debeer, Luc De Smet, Jean-Pierre Fryns

المساهمون: Clinical sciences

مصطلحات موضوعية: Adult, Fetal Proteins, Male, medicine.medical_specialty, mice, Hearing loss, Formins, Ulna, Biology, Gene duplication, Genetics, medicine, Limb development, Animals, Humans, Abnormalities, Multiple, Syndactyly, Genetics (clinical), hearing loss, Chromosome Aberrations, Gene Rearrangement, Chromosomes, Human, Pair 15, Genome, Human, Research Support, Non-U.S. Gov't, Microfilament Proteins, Infant, Nuclear Proteins, Anatomy, Gene rearrangement, Interdigital webbing, Synostosis, medicine.disease, syndrome, Pedigree, Radius, Phenotype, Genetic Loci, Medical genetics, Intercellular Signaling Peptides and Proteins, Female, Kidney Diseases, medicine.symptom, Chickens, radiography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7218db8fd6ec28d114d7d1b822b81706Test
https://hdl.handle.net/20.500.14017/11b4c862-2b61-423a-8125-a5b4062dfc43Test

المؤلفون: K Devriendt, C.E.M. de Die-Smulders, Joris Vermeesch, Annick Toutain, J. P. Fryns, J Van Driessche, T. De Ravel, Ph. Debeer, Boyan Dimitrov

المساهمون: Clinical sciences, Vrije Universiteit Brussel, Faculty of Medicine and Pharmacy, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction

المصدر: Journal of Medical Genetics, 47(2), 103-111. BMJ Publishing Group

مصطلحات موضوعية: Male, medicine.medical_specialty, Chromosomes, Artificial, Bacterial, Foot Deformities, Congenital, Micrognathism, Limb Deformities, Congenital, comparative genomic hybridization, Germline mosaicism, Locus (genetics), Biology, Polymerase Chain Reaction, Chromosome 19, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, Gene Rearrangement, Chromosomes, Human, Pair 10, F-Box Proteins, Cytogenetics, Chromosome Mapping, Gene rearrangement, syndrome, Chromosomal region, Cohort studies, Female, Hand Deformities, Congenital, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::250b4c46f2024481f161fcbbcdb20fa9Test
https://doi.org/10.1136/jmg.2008.065888Test

المؤلفون: Alexander Valent, Fernando Schmitt, Adhemar Longatto-Filho, Philippe Vielh

المساهمون: Universidade do Minho

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Lung Diseases, Male, medicine.medical_specialty, Pathology, 030209 endocrinology & metabolism, Professional practice, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Cytology, medicine, Humans, Medical physics, Dna viral, In Situ Hybridization, Fluorescence, Gene Rearrangement, Vaginal Smears, Science & Technology, business.industry, Papillomavirus Infections, Anatomical pathology, General Medicine, Gene rearrangement, DNA, Thyroid Diseases, 3. Good health, Serous fluid, Cytopathology, 030220 oncology & carcinogenesis, Cytogenetic Analysis, DNA, Viral, Female, business, Genital Diseases, Female, Forecasting

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ea288e403e29997c16c6cf42de2770Test
https://hdl.handle.net/1822/61624Test

المؤلفون: Kushal Naha, Sowjanya Dasari, Ganapathiraman Vivek, Manjunath H Hande

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Adult, Liver Cirrhosis, Male, Pathology, medicine.medical_specialty, Cirrhosis, Hypereosinophilia, Budd-Chiari Syndrome, Gastroenterology, Article, Myeloproliferative Disorders, Internal medicine, Hypereosinophilic Syndrome, medicine, Eosinophilia, Humans, Hypereosinophilic syndrome, business.industry, General Medicine, Gene rearrangement, Janus Kinase 2, medicine.disease, Mutation, Budd–Chiari syndrome, Portal hypertension, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509355da806e652e5b7cf1017ef77271Test
https://europepmc.org/articles/PMC3762390Test/

المؤلفون: Teresa Hernández-Iglesias, Rodolfo Montironi, E. de Álava, Carlos Mackintosh, Antonio Lopez-Beltran, C Pérez-Seoane

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Oncogene Proteins, Fusion, CD99, Short Report, Vimentin, Biology, Pathology and Forensic Medicine, Cytokeratin, medicine, Humans, Neuroectodermal Tumors, Primitive, Urinary bladder, Proto-Oncogene Protein c-fli-1, CD117, General Medicine, Gene rearrangement, Neoplasm Proteins, medicine.anatomical_structure, Urinary Bladder Neoplasms, Fusion transcript, biology.protein, Immunohistochemistry, Female, RNA-Binding Protein EWS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37f59b1ce9608774ed27e8b0938b41eaTest
http://hdl.handle.net/10261/62665Test

المؤلفون: Rio, M., Molinari, M, Heuertz, S, Ozilou, C., Gosset, P., Raoul, O., Cormier-Daire, C, Amiel, A, Lyonnet, L., Le Merrer, L, Turleau, C., de Blois, M, Prieur, M., Romana, S, Vekemans, M., Munnich, A., Colleaux, Laurence

المساهمون: Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Handicaps génétiques de l'enfant (Inserm U393)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: MESH: Child, MESH: Chromosome Deletion, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Intellectual Disability, MESH: Male, MESH: Microsatellite Repeats, MESH: Pedigree, MESH: Polymorphism, Genetic, MESH: Sensitivity and Specificity, MESH: Syndrome, MESH: Telomere, MESH: Chromosome Mapping, MESH: Uniparental Disomy, MESH: Chromosome Segregation, MESH: Female, MESH: Fluorescent Dyes, MESH: Gene Duplication, MESH: Gene Rearrangement, MESH: Genetic Testing, MESH: Genotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11950856; hal-02142116; https://hal.science/hal-02142116Test; PUBMED: 11950856; PUBMEDCENTRAL: PMC1735076

الإتاحة: https://doi.org/10.1136/jmg.39.4.266Test
https://hal.science/hal-02142116Test