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المؤلفون: Marcelo Leonardo Nenkies, Diana Noemi Garcia de Paoletti, Hugo A. Guglielmone, Antonio Girolami, Silvia Ferrari
المصدر: Cardiovascular & Hematological Disorders-Drug Targets. 19:169-173
مصطلحات موضوعية: Pharmacology, Pediatrics, medicine.medical_specialty, business.industry, Factor X, Heterozygote advantage, Hematology, General Medicine, Factor X deficiency, Compound heterozygosity, Asymptomatic, chemistry.chemical_compound, Exon, chemistry, Mutation (genetic algorithm), New mutation, medicine, Molecular Medicine, medicine.symptom, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9cfacc9aadff857b6a58b4483749bcd8Test
https://doi.org/10.2174/1871529x19666181212103944Test -
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المؤلفون: Wesley G. Beamer, Hope O. Sweet, John P. Sundberg, Seth J. Orlow
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, integumentary system, Polydactyly, business.industry, Cortical morphology, Chromosome, medicine.disease, medicine.disease_cause, Hyperpigmentation, Dysplasia, New mutation, medicine, medicine.symptom, business, Adrenocortical Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d9155715f2bbd074f4f1b0aeff11b94dTest
https://doi.org/10.1201/9781003068952-18Test -
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المؤلفون: Atsushi Watanabe, Yasuo Kitamura, Keiki Yokoo, Naoki Hirokawa, Masahiro Miyajima, Sayaka Kudoh, Aki Ishikawa, Gen Yamada, Hiroshi Saijo, Hiroki Takahashi, Hiroko Morisaki, Hirofumi Chiba
المصدر: Respiratory Medicine Case Reports
Respiratory Medicine Case Reports, Vol 25, Iss, Pp 73-77 (2018)مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Osler-Weber-Rendu Disease, Case Report, Endovascular occlusion, Pulmonary arteriovenous malformation, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine, Telangiectasia, Genetic testing, lcsh:RC705-779, medicine.diagnostic_test, business.industry, lcsh:Diseases of the respiratory system, Partial resection, Hereditary hemorrhagic telangiectasia, 030228 respiratory system, Mutation (genetic algorithm), New mutation, Radiology, medicine.symptom, business, Osler-Weber-Rendu disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e4e80833bb1bef44c1f409b4db3ba6aTest
https://doi.org/10.1016/j.rmcr.2018.07.001Test -
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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: 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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المؤلفون: Kanjaksha Ghosh, Kanchan Mishra, Shrimati Shetty, Avani Shah, Parizad Patel
المصدر: Mediterranean Journal of Hematology and Infectious Diseases
Mediterranean Journal of Hematology and Infectious Diseases, Vol 11, Iss 1, Pp e2019018-e2019018 (2019)مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Cryopyrin, Abdominal pain, medicine.medical_specialty, India, Familial Mediterranean fever, Case Report, 03 medical and health sciences, Acute Intermittent Porphyria, 0302 clinical medicine, Paroxysmal attack, medicine, Autoinflammatory syndrome, Stretchable skin, Inflammosome, Acute intermittent porphyria, 030203 arthritis & rheumatology, Porphyria, lcsh:RC633-647.5, business.industry, New mutation, lcsh:Diseases of the blood and blood-forming organs, Hematology, medicine.disease, Autoinflammatory Syndrome, Dermatology, 030104 developmental biology, Infectious Diseases, Hypermobility, medicine.symptom, business, Cutis laxa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4bc4edb13f747a678fc13ce9b6a839bTest
http://europepmc.org/articles/PMC6402545Test -
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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: 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 -
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المؤلفون: Bangqing Huang, Pu Dai, Yongyi Yuan, Jia-ling Zeng
المصدر: Journal of Otology. 10:78-82
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Mutation, Traditional medicine, business.industry, Hearing loss, New mutation, medicine.disease, medicine.disease_cause, Stop codon, POU3F4, DFNX2, Otorhinolaryngology, Dysplasia, Temporal bone, medicine, Coding region, medicine.symptom, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9cbb3d391137f3ae2f72b9e6ba224c6Test
https://doi.org/10.1016/j.joto.2015.09.004Test -
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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