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المصدر: Australian Endodontic Journal. 47:343-349
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Dentin dysplasia, 0206 medical engineering, Dentistry, 030206 dentistry, 02 engineering and technology, Pulp stone, medicine.disease, Endodontics, 020601 biomedical engineering, stomatognathic diseases, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Blunt, stomatognathic system, Irreversible pulpitis, New mutation, Dentin, medicine, business, General Dentistry, Pulp necrosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cff1677fe8f2dab3e78252485f75540aTest
https://doi.org/10.1111/aej.12444Test -
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المؤلفون: Elina Bychkova, E. A. Filippova, N. A. Golubeva, A. V. Markov, L. O. Sangina
المصدر: Russian Journal of Genetics. 56:108-111
مصطلحات موضوعية: 0106 biological sciences, Genetics, 0303 health sciences, CATS, engineering.material, Biology, Hair follicle, 01 natural sciences, Phenotype, Breed, Human genetics, 03 medical and health sciences, medicine.anatomical_structure, Carnelian, New mutation, engineering, medicine, Mc1r gene, 030304 developmental biology, 010606 plant biology & botany
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ab439d6bcdbf16cb3dc087531623be89Test
https://doi.org/10.1134/s1022795420010020Test -
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المؤلفون: Sofia Hadjieconomou, Jenny Hughes
المصدر: Pediatric Dermatology. 37:983-984
مصطلحات موضوعية: Male, Hemangioma, Cavernous, Central Nervous System, medicine.medical_specialty, Pathology, Neurology, Adolescent, Dermatology, Cerebral cavernous malformations, Asymptomatic, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Proto-Oncogene Proteins, medicine, Humans, Genetic Testing, Family history, Genetic testing, medicine.diagnostic_test, business.industry, Spinal cord, Magnetic Resonance Imaging, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, New mutation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096af2074d571bf5778f63d926e75642Test
https://doi.org/10.1111/pde.14296Test -
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المؤلفون: Ana Peña Cabia, Enrique Prada de Medio, Sandra Serrano Martínez, Mubarack Alramadan, Ana María Cerezo Arillo, María Luisa Giménez Alarcón
المصدر: Revista del Laboratorio Clínico. 9:173-176
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Thyroid, Genetic disorder, 030209 endocrinology & metabolism, medicine.disease, Thyroid hormone receptor beta, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Free thyroxin, Internal medicine, New mutation, medicine, 030212 general & internal medicine, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bee7197665e0e5e3763170b1ac6db07Test
https://doi.org/10.1016/j.labcli.2016.06.001Test -
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المؤلفون: Jordan L. Williams, Omer Cavus, Muhannad Akel, Elisa A. Bradley, Peter J. Mohler, Matthew Granger, Sara N. Koenig, Peter B. Baker, Francesca Madiai
المصدر: Journal of the American College of Cardiology. 75:2227
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Cell, medicine.disease, Connective tissue disease, Ehlers danlos, Familial thoracic aortic aneurysm, medicine.anatomical_structure, Smooth muscle, Mutation (genetic algorithm), New mutation, medicine, CTD, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cb50c16f91908cdd3ecaf0a5e6c03f21Test
https://doi.org/10.1016/s0735-1097Test(20)32854-0 -
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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: I. Kapetanakis, G. Grigoriadou, K. Katsieri, M. Vakaki, Helen Athanasopoulou, Artemis Doulgeraki, A. Nika, G. Servos
المصدر: Bone Abstracts.
مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.anatomical_structure, Calcinosis, business.industry, New mutation, Central nervous system, medicine, General Medicine, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f394a9f6d0c544b4ed9099b371b4da17Test
https://doi.org/10.1530/boneabs.6.p181Test -
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المؤلفون: Ronald J.E. Pennings, Patrick L. M. Huygen, Henricus P. M. Kunst, Lies H. Hoefsloot, Ad F. M. Snik, Ronald J.C. Admiraal, E. van Beelen, Joop M. Leijendeckers
المصدر: Audiology and Neurotology. 19:106-114
مصطلحات موضوعية: Vestibular system, medicine.medical_specialty, Physiology, business.industry, GATA3, Audiogram, Audiology, medicine.disease, Sensory Systems, Loudness, Speech and Hearing, medicine.anatomical_structure, Otorhinolaryngology, Hypoparathyroidism, New mutation, otorhinolaryngologic diseases, medicine, Hair cell, business, Flat audiogram
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3ae09a4210171277a4cc6e0d0d07dcdfTest
https://doi.org/10.1159/000356303Test -
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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: Rezvan Notash, Gholamreza Bayazian, Shahin AbdollahiFakhim
المصدر: Egyptian Journal of Ear, Nose, Throat and Allied Sciences. 15:173-175
مصطلحات موضوعية: Mouth roof, Inheredity, business.industry, Dentistry, Cleft palate lateral synechia syndrome, medicine.disease, medicine.anatomical_structure, Cleft palate, Oral lateral synechia, Tongue, New mutation, Cleft Palate-Lateral Synechia Syndrome, medicine, Rare syndrome, General Materials Science, business, Synechia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5e8b89f8949f688649b8ea5e548c6eTest
https://doi.org/10.1016/j.ejenta.2014.02.003Test