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1
المؤلفون: Julian D Eason, Solange Bou Chaaya, Bibian N Ofoegbu
المصدر: BMJ Case Reports. :bcr-2016
مصطلحات موضوعية: Diarrhea, 0301 basic medicine, Parenteral Nutrition, Pediatrics, medicine.medical_specialty, Choanal atresia, Choanal Atresia, Article, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, medicine, Mutation database, Humans, Abnormalities, Multiple, Membrane Glycoproteins, business.industry, Infant, General Medicine, medicine.disease, Failure to Thrive, 030104 developmental biology, Parenteral nutrition, Mutation, Failure to thrive, New mutation, Mutation (genetic algorithm), Egypt, Female, 030211 gastroenterology & hepatology, medicine.symptom, business, Metabolism, Inborn Errors, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::455ad8ca7f79ca8a9c84af8eaf45a819Test
https://doi.org/10.1136/bcr-2016-217464Test -
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المؤلفون: S E Pound, Peter C. Harris, M L Watson, Anna Maria Frischauf, S. Thomas, P M Pignatelli, A F Wright, A. Snarey, A M Macnicol
المصدر: Journal of Medical Genetics. 32:208-212
مصطلحات موضوعية: Adult, Genetic Markers, Male, TRPP Cation Channels, Genetic Linkage, Autosomal dominant polycystic kidney disease, Locus (genetics), Biology, urologic and male genital diseases, Genetic linkage, Genetics, medicine, Humans, Gene, Genetics (clinical), Aged, PKD1, urogenital system, Haplotype, Proteins, Middle Aged, Polycystic Kidney, Autosomal Dominant, medicine.disease, female genital diseases and pregnancy complications, Haplotypes, Genetic marker, Mutation, New mutation, Female, Chromosomes, Human, Pair 16, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c69932fb28fa4b8b5e665f02d6bd84Test
https://doi.org/10.1136/jmg.32.3.208Test -
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المؤلفون: Andrew Zeft, John F. Bohnsack
المصدر: Annals of the Rheumatic Diseases. 66:843-844
مصطلحات موضوعية: medicine.diagnostic_test, business.industry, Immunology, Familial Mediterranean fever, medicine.disease, Autoinflammatory Syndrome, General Biochemistry, Genetics and Molecular Biology, Family member, medicine.anatomical_structure, Rheumatology, Familial Cold Autoinflammatory Syndrome, Dermis, New mutation, Skin biopsy, medicine, Immunology and Allergy, Letters, Clinical phenotype, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be03d2a86f0a932e22cce9864c7a29aTest
https://doi.org/10.1136/ard.2006.064899Test -
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المؤلفون: S Tate
المصدر: Thorax. 60:417-417
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pathology, Web of science, business.industry, Drug resistance, medicine.disease, Gastroenterology, Gefitinib, Lung Alert, Egfr mutation, Internal medicine, New mutation, Medicine, Non small cell, business, Lung cancer, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1a462a4806de0619c94b6bcfe1ce71Test
https://doi.org/10.1136/thx.2005.la0151Test -
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المؤلفون: J F Clayton
المصدر: Journal of Medical Genetics. 23:35-39
مصطلحات موضوعية: Male, Risk, Genetics, X Chromosome, Models, Genetic, Disease, Biology, Pedigree, Recurrence risk, Sex Chromosome Aberrations, New mutation, Genotype, Humans, Female, Genetic risk, Software, Genetics (clinical), X chromosome, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0f769fbf9f5526a29f10a8aeaf66bfTest
https://doi.org/10.1136/jmg.23.1.35Test