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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: Panlai Shi, Conghui Wang, Rui Li, Xiangdong Kong
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Adult, Parents, copy number variations (CNVs), 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, lcsh:QH426-470, endocrine system diseases, 030105 genetics & heredity, Biology, CNV‐seq, Young Adult, 03 medical and health sciences, Fetus, Likely benign, Pregnancy, Gene Duplication, mental disorders, Gene duplication, Genetics, Humans, Clinical significance, Copy-number variation, Molecular Biology, Uncertain significance, Genetics (clinical), Likely pathogenic, parental origin, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Original Articles, clinical interpretation, lcsh:Genetics, 030104 developmental biology, New mutation, Amniocentesis, Female, Original Article, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acae10248934d7e1bd9aba8473dacba3Test
https://doi.org/10.1002/mgg3.944Test -
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المؤلفون: Rudolf Happle
المصدر: Journal of the European Academy of Dermatology and Venereology. 32:1075-1088
مصطلحات موضوعية: medicine.medical_specialty, Skin Neoplasms, Genetic counseling, Dermatology, Loss of heterozygosity, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Genetic etiology, Humans, Medicine, Vascular Diseases, Allele, Connective Tissue Diseases, Paraganglioma, Extra-Adrenal, Mosaicism, business.industry, Skin Diseases, Genetic, Glomus Tumor, Molecular analysis, Infectious Diseases, Clinical evidence, 030220 oncology & carcinogenesis, New mutation, Bone Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79842b2afad2c2e7161ec12bf4e87b2Test
https://doi.org/10.1111/jdv.14838Test -
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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: Juana Pelegrín Díaz, Lorenzo Montserrat Iglesias, Ariadna Ayerza Casas, Esther Aurensanz Clemente, Cecilia García Lasheras, Feliciano Jesús Ramos Fuentes, Inés Bueno Martínez, Pablo Ruiz Frontera
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Genetics, Familial Hypertrophic Cardiomyopathy, business.industry, Hypertrophic cardiomyopathy, myosin‐binding protein C, Case Report, Case Reports, General Medicine, Disease, 030204 cardiovascular system & hematology, hypertrophic cardiomyopathy, medicine.disease, 03 medical and health sciences, MYH7, 030104 developmental biology, 0302 clinical medicine, Myosin-binding protein C, New mutation, Medicine, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c804ae18eccc8af82b059e067e42b4fTest
https://doi.org/10.1002/ccr3.832Test -
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المؤلفون: Maria Reis Andrade, Catarina Dantas Rodrigues, Celeste Bento, Paula Rocha, Gisela Ferreira, Conceição Constanço, Helena Matos Silva, João Barradas
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Congenital erythrocytosis, Case Report, phd2, Case Reports, 03 medical and health sciences, 0302 clinical medicine, medicine, Gene, thrombosis, EGLN1 Gene, Red Cell, hypoxia, business.industry, General Medicine, Hypoxia (medical), medicine.disease, Thrombosis, 030104 developmental biology, New mutation, Mutation (genetic algorithm), Cancer research, medicine.symptom, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb56ded1adef7e99c8f1b268c4aa17cTest
https://doi.org/10.1002/ccr3.1499Test -
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المصدر: American Journal of Hematology. 92:E38-E40
مصطلحات موضوعية: 0301 basic medicine, Genetics, Anemia, Hematology, Biology, medicine.disease, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hemoglobinopathy, Low affinity, New mutation, medicine, 030212 general & internal medicine, Beta globin gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3e217937fe5a40bdaba18e360b5e6eacTest
https://doi.org/10.1002/ajh.24649Test -
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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: Pierre Boisseau, Mathilde Giraud, Stéphane Bézieau, Marie A. Gourlaouen, Marie C. Béné, Nelly Robillard, Marc Fouassier, Thomas Besnard, Patricia Talarmain, Sinthuja Pachchek
المصدر: British Journal of Haematology. 180:750-752
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, Inherited platelet disorder, 030104 developmental biology, Phospholipid scramblase, Scott syndrome, business.industry, New mutation, medicine, Hematology, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5feff4a38bdf7dcbc0c8e0eab7f34847Test
https://doi.org/10.1111/bjh.14439Test -
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المؤلفون: Anna Latorre, Bettina Balint, Vittorio Rispoli, Kailash P. Bhatia
المصدر: Movement Disorders Clinical Practice. 6:265-266
مصطلحات موضوعية: Genetics, Ataxia, Neurology, business.industry, New mutation, medicine, Neurology (clinical), Oculomotor apraxia, medicine.symptom, medicine.disease, business, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b734e4dac71b4d743861d4596a5ef959Test
https://doi.org/10.1002/mdc3.12725Test