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المؤلفون: Jia Li, Tianji Shi, Jiajun Chen, Cheng Tan
المصدر: Medicine
مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, hereditary diffuse leukoencephalopathy, new mutation site, Disease, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, Dementia, Clinical Case Report, 030212 general & internal medicine, medicine.diagnostic_test, business.industry, genetic family trees, High-Throughput Nucleotide Sequencing, Magnetic resonance imaging, General Medicine, medicine.disease, Hyperintensity, Pedigree, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), business, Research Article, HDLS, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d1ac0b720f42230c18a05e939d4064Test
https://doi.org/10.1097/md.0000000000015802Test -
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المصدر: Clinical Dysmorphology. 18:41-44
مصطلحات موضوعية: Genetics, Portugal, business.industry, Intracellular Signaling Peptides and Proteins, Proteins, Syndrome, General Medicine, language.human_language, Pathology and Forensic Medicine, Mutation, Pediatrics, Perinatology and Child Health, New mutation, Mutation (genetic algorithm), language, Humans, Medicine, Abnormalities, Multiple, Female, Anatomy, Portuguese, Child, business, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e3873d9dfd55c2797a2759bedfb7dcfTest
https://doi.org/10.1097/mcd.0b013e32831868eaTest -
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المؤلفون: Jose Luis Martinez-Torres, Alfonso López-Luque, Miguel Arrabal-Martin, Francisco Valle-Díaz de la Guardia, Antonio Jiménez-Pacheco, Armando Zuluaga-Gomez, Mercedes Nogueras-Ocaña, Miguel Ángel Arrabal Polo
المصدر: Journal of Urology. 183
مصطلحات موضوعية: Quinolone resistance, business.industry, Urology, New mutation, Medicine, business, medicine.disease_cause, Escherichia coli, Microbiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ccdc269739a980d78ac0d3bf479404b1Test
https://doi.org/10.1016/j.juro.2010.02.913Test -
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المؤلفون: Sophie Giraud, Fouad Taghzouti
المصدر: Journal of Hypertension. 30:e190-e191
مصطلحات موضوعية: Genetics, Physiology, business.industry, New mutation, Internal Medicine, Medicine, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c14b77fbc5285b5190db8ed7f4d8a76fTest
https://doi.org/10.1097/01.hjh.0000420477.88016.62Test -
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المؤلفون: Michelle K. Kim, Sasan Roayaie, Hongfa Zhu, Jaclyn F. Hechtman, Ritu Agarwal, Richard R.P. Warner
المصدر: American Journal of Gastroenterology. 106:S260-S261
مصطلحات موضوعية: Hepatology, business.industry, New mutation, Gastroenterology, Cancer research, Medicine, Midgut Carcinoid Tumor, business, Multiple endocrine neoplasia, medicine.disease, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb0f97df95fc903de80dd7e491827c8cTest
https://doi.org/10.14309/00000434-201110002-00685Test -
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المؤلفون: Ruth SoRelle
المصدر: Circulation. 101
مصطلحات موضوعية: medicine.medical_specialty, Injury control, business.industry, Accident prevention, Poison control, medicine.disease, Suicide prevention, Physiology (medical), New mutation, Tragedy (event), Medicine, Medical emergency, Cardiology and Cardiovascular Medicine, Young female, business, Psychiatry, Young person
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::516c36d22caabe7f956ec0f8bdc319cfTest
https://doi.org/10.1161/01.cir.101.3.e36Test -
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المؤلفون: Jamie Talan
المصدر: Neurology Today. 12:1
مصطلحات موضوعية: Genetics, Neurology, business.industry, New mutation, Medicine, Neurology (clinical), Paroxysmal dyskinesia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::53c187b98b5070d8fbd89839a9bdf64dTest
https://doi.org/10.1097/01.nt.0000411146.04489.4eTest -
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المؤلفون: Pedro Pérez-Segura, Trinidad Caldés, Miguel de la Hoya, Eduardo Díaz-Rubio, Manuel Benito, Javier Godino
المصدر: The American Journal of Gastroenterology. 95:2389-2390
مصطلحات موضوعية: Genetics, Hepatology, Muir–Torre syndrome, business.industry, New mutation, Gastroenterology, medicine, medicine.disease, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0577e0ea0ac4bef46321e08290ea5c3dTest
https://doi.org/10.1111/j.1572-0241.2000.02344.xTest -
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المؤلفون: F. Reisecker, W. Rosenkranz, G. Radner, Klaus Wagner, F. Leblhuber, R. Lexner
المصدر: Neurology. 44:753-753
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Gene dosage, Nerve conduction velocity, chemistry.chemical_compound, Recurrence, Peripheral nerve, Pressure, Humans, Paralysis, Medicine, Peripheral Nerves, Gene, business.industry, Electrodiagnosis, Myelin sheaths, Peripheral Nervous System Diseases, DNA, Chromosome 17 (human), Microscopy, Electron, chemistry, New mutation, Neurology (clinical), business, Gene Deletion, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41115836e9df622f31240247a7255d3eTest
https://doi.org/10.1212/wnl.44.4.753Test -
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المؤلفون: Bruce O. Berg, Robert B. Layzer, Donna L. Daentl, Charles J. Epstein
المصدر: Neurology. 24:55-55
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Pediatrics, medicine.medical_specialty, Weakness, Shoulders, Neural Conduction, Atrophy, Humans, Medicine, Myopathy, Creatine Kinase, Genes, Dominant, Muscle contracture, Arthrogryposis, Arthrogryposis multiplex congenita, Electromyography, business.industry, Muscles, Infant, medicine.disease, Microscopy, Electron, New mutation, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1b2a05afc75be8d532d0082573135aTest
https://doi.org/10.1212/wnl.24.1.55Test