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المؤلفون: Ana Maria Reis Ferreira, Felipe Gomes Ferreira Padilha, Liane de Castro, Kênia Balbi El-Jaick, Aline dos Santos Moreira
المصدر: Journal of Equine Science. 29:21-24
مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Genetics, biology, Equine, Myostatin, 01 natural sciences, Genomic databases, Breed, Genetic profile, 03 medical and health sciences, 030104 developmental biology, New mutation, biology.protein, Gene, Selection (genetic algorithm), 010606 plant biology & botany, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3438d16df79d9d65c8843f228ba4261eTest
https://doi.org/10.1294/jes.29.21Test -
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المؤلفون: Carlos González Oller, Raimundo G. del Moral, Mercedes Caba Molina, M. Adoración Martín-Gómez, Coto Eliecer
المصدر: Nefrología (English Edition). 39:309-311
مصطلحات موضوعية: Adult, Genetics, Tamm–Horsfall protein, biology, business.industry, Hyperuricemia, Pedigree, HYPERURICAEMIC NEPHROPATHY, Nephrology, Mutation, Uromodulin, New mutation, biology.protein, Humans, Medicine, Female, Kidney Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73cb652ad6e859174848b6263d9c0fdTest
https://doi.org/10.1016/j.nefroe.2018.09.004Test -
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المؤلفون: Rieko Kawabata
المصدر: Nature Middle East.
مصطلحات موضوعية: biology, New mutation, Immunology, biology.protein, Immunoglobulin E
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::300c01b7c895e3b303859ee1ca96d24dTest
https://doi.org/10.1038/nmiddleeast.2019.108Test -
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المؤلفون: Aliya Akhmetgaleyeva, Mariya Yankina, Rimma Idrisova, Elza Khusnutdinova, Elena Saifullina, I. M. Khidiyatova, R. V. Magzhanov
المصدر: Neuroscience for Medicine and Psychology.
مصطلحات موضوعية: Genetics, Tubulin, Autosomal dominant spastic paraplegia, New mutation, biology.protein, Identification (biology), In patient, Biology, Gene, Isotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4711eb5397b8d3fb6c2aff09c4d5b316Test
https://doi.org/10.29003/m608.sudak.ns2019-15/437-438Test -
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المؤلفون: Xavier Pillois, C Goulas, M Fiore
المصدر: Clinical Genetics. 91:924-926
مصطلحات موضوعية: 0301 basic medicine, Microtubule assembly, 030204 cardiovascular system & hematology, Biology, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Protein structure, Tubulin, Terminal (electronics), Microtubule, New mutation, Gene expression, DNA Mutational Analysis, Genetics, biology.protein, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75c0df14de1125f422b970fc83022f07Test
https://doi.org/10.1111/cge.12879Test -
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المؤلفون: Ozden Turel, Deniz Aygün, Micheal Hershfield, Emel Torun, Yildiz Camcioglu, Murat Kardas
المساهمون: TÜREL, Özden
المصدر: Pediatrics and Neonatology, Vol 59, Iss 1, Pp 97-99 (2018)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Lymphocyte, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Adenosine deaminase, immune system diseases, medicine, Purine metabolism, Severe combined immunodeficiency, Mutation, biology, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, hemic and immune systems, medicine.disease, Adenosine deaminase deficiency, Diarrhea, enzymes and coenzymes (carbohydrates), 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Immunology, Failure to thrive, biology.protein, Turel O., AYGUN D., KARDAS M., TORUN E., HERSHFIELD M., CAMCıOGLU Y., -A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.-, Pediatrics and neonatology, cilt.59, ss.97-99, 2018, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34374fd68f791ca33d613ebb05b114afTest
https://hdl.handle.net/20.500.12645/6067Test -
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المؤلفون: V. De Re, Gianmaria Miolo, Laura Caggiari, Mara Fornasarig, Vincenzo Canzonieri, R. Cannizzaro
المصدر: Digestive and Liver Disease. 50:e130-e131
مصطلحات موضوعية: Hepatology, biology, business.industry, Stomach, Gastroenterology, medicine.disease, CDH1, medicine.anatomical_structure, Signet ring cell carcinoma, New mutation, medicine, biology.protein, Cancer research, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6aed35138994d65d605f7b32f728e01eTest
https://doi.org/10.1016/s1590-8658Test(18)30410-9 -
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المؤلفون: Julie Soblet, Catheline Vilain, Guillaume Smits, Nicolas Deconinck, Alec Aeby, Lionel Paternoster
المصدر: Journal of the Neurological Sciences. 381:1136-1137
مصطلحات موضوعية: Genetics, biology, Cerebellar ataxia, 05 social sciences, 050105 experimental psychology, Disequilibrium syndrome, 03 medical and health sciences, 0302 clinical medicine, Neurology, Carbonic anhydrase, New mutation, biology.protein, medicine, 0501 psychology and cognitive sciences, Neurology (clinical), medicine.symptom, Gene, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ad12da31875d55422ca3e6ee9a72a69Test
https://doi.org/10.1016/j.jns.2017.08.3200Test -
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المؤلفون: Jose C. Nuñez, Charles Marques Lourenço, Vanessa Daccach Marques, Wilson Marques, R F Herrera, Daisy I. Cabrini, Carolina Lavigne Moreira
المصدر: Journal of the Peripheral Nervous System. 20:60-62
مصطلحات موضوعية: medicine.medical_specialty, biology, business.industry, General Neuroscience, MEDLINE, Late onset, Bioinformatics, Transthyretin, Text mining, Endocrinology, Internal medicine, New mutation, biology.protein, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9d4bb938547d883216091616704d278dTest
https://doi.org/10.1111/jns.12112Test -
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المؤلفون: Michel Hanss, Angéline Chabaud, Ludovic Mansuy, Philippe de Mazancourt, Marie Toussaint-Hacquard, Thomas Lecompte, J. Devignes
المصدر: Annales de biologie clinique. 71:489-495
مصطلحات موضوعية: Male, Heterozygote, Herpesvirus 6, Human, Fibrinogen, Fibrin, Cytosine, Exanthema Subitum, medicine, Consensus sequence, Humans, Histidine, Dysfibrinogenemia, Child, Codon, Gene, Incidental Findings, Polymorphism, Genetic, biology, business.industry, Adenine, Fibrinogens, Abnormal, General Medicine, Afibrinogenemia, medicine.disease, Molecular biology, Mutation, New mutation, Mutation (genetic algorithm), biology.protein, Asparagine, business, Meningitis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76063be6f8a2a01da0c5eff8046d66f7Test
https://doi.org/10.1684/abc.2013.0872Test