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المؤلفون: Jun Guo, Jing Yu, Yu Wang, Zhong-Jie Guo, Rong-Xiang Zhao, Fu Liu, Dan Ren
المصدر: World Journal of Clinical Cases
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lesions outside of the basal ganglia, medicine.diagnostic_test, business.industry, New mutation, Magnetic resonance imaging, macromolecular substances, General Medicine, Irreversible damage to the basal ganglia, Life-threatening symptoms, Basal ganglia, Case report, medicine, Severe β-ketothiolase deficiency, business, β ketothiolase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::167026651d69e49ab28aea4dda2dea5dTest
http://europepmc.org/articles/PMC8567524Test -
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المؤلفون: Diğdem Bezen, Nimet Pinar Yilmazbas, Biray Erturk
المصدر: European Archives of Medical Research. 35:253-256
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, New mutation, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ceb02eaccec45fdcb345f8281382a56Test
https://doi.org/10.4274/eamr.galenos.2018.23600Test -
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المؤلفون: Wen Zhu, Tian-Jiao Wang, Hua Wang, Li-Fang Wu, Yi-Qun Teng, Junguo Chen, Xiao-Lin Liu
المصدر: Immunologic Research. 67:454-459
مصطلحات موضوعية: Male, Liver injury, Pathology, medicine.medical_specialty, X-Linked Hyper IgM Syndrome, Hyper-IgM Immunodeficiency Syndrome, Type 1, business.industry, Hyper-IgM Immunodeficiency Syndrome, CD40LG gene, CD40 Ligand, Immunology, Mutation, Missense, Infant, Locus (genetics), medicine.disease, Amino Acid Substitution, Genetic Loci, New mutation, medicine, Hepatic Insufficiency, Humans, Missense mutation, Interstitial pneumonia, Lung Diseases, Interstitial, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e318257922a6ba071e90929d9d2751Test
https://doi.org/10.1007/s12026-019-09098-4Test -
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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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المصدر: D64. PULMONARY HYPERTENSION: CASE REPORTS.
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, New mutation, medicine, Pulmonary capillary hemangiomatosis, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b54a92a9c1ec3b87e316afcd3f13dbdTest
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a7279Test -
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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: T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova
المصدر: Pediatričeskaâ Farmakologiâ, Vol 13, Iss 4, Pp 399-403 (2016)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, tnfrsf1a, medicine.drug_class, RM1-950, medicine.disease_cause, Monoclonal antibody, Gastroenterology, canakinumab, Exon, molecular genetic diagnosis, Computer analysis, children, Internal medicine, medicine, Receptor, Adverse effect, new mutation, Mutation, business.industry, Interleukin, autoinflammatory syndromes, Canakinumab, Therapeutics. Pharmacology, traps, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c09d1d361e1e5684f902d16ae2726bTest
https://www.pedpharma.ru/jour/article/view/1449Test -
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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: Alejandra Camacho-Molina, Marisol Molina-Medina, Yerye Gibrán Mayén Lobo, José de Jesús Flores-Rivera, Katiuzka Casares-Cruz, Nancy Monroy Jaramillo
المصدر: Molecular Genetics and Metabolism. 129:S37
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Multiple sclerosis, medicine.disease, Biochemistry, Fabry disease, Endocrinology, New mutation, Genetics, medicine, Differential diagnosis, business, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::56cc8838b31fa16d585cfd2a3ef01eceTest
https://doi.org/10.1016/j.ymgme.2019.11.071Test -
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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