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1دورية أكاديمية
المؤلفون: Grzadkowski, Michal R, Sendorek, Dorota H, P’ng, Christine, Huang, Vincent, Boutros, Paul C
المصدر: BMC Bioinformatics. 19(1)
مصطلحات موضوعية: Information and Computing Sciences, Biological Sciences, Mathematical Sciences, Cancer, Breast Cancer, Genetics, Biotechnology, Algorithms, Biomarkers, Tumor, Breast Neoplasms, Databases, Genetic, Female, Humans, Models, Genetic, Prognosis, Survival Analysis, Multi-gene models, Single-gene models, Survival models, Bioinformatics, Biological sciences, Information and computing sciences, Mathematical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4233t912Test
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المؤلفون: Heba Mohammad Fayed, Soha Ahmed Hassan, Waheed Mohamed, Hala Yassin
المصدر: Egyptian Dental Journal. 67:3279-3289
مصطلحات موضوعية: business.industry, Etiology, Medicine, Genome-wide association study, Single gene mutation, business, Bioinformatics, Human genetics, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0462e993023b74f8509efca8e397f1fcTest
https://doi.org/10.21608/edj.2021.91148.1757Test -
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المؤلفون: Ritsuko K Pooh
المصدر: Donald School Journal of Ultrasound in Obstetrics and Gynecology. 15:229-239
مصطلحات موضوعية: Fetus, medicine.medical_specialty, Neurology, business.industry, Brain damage, Bioinformatics, Neurulation, Medicine, Radiology, Nuclear Medicine and imaging, Geriatrics and Gerontology, Single gene mutation, medicine.symptom, business, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::15eb29f9c4485b3a7eec3968047d06e3Test
https://doi.org/10.5005/jp-journals-10009-1718Test -
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المؤلفون: Norman Delanty, Kate Stanley, Mohamed A. Mikati, Terence J O’Brien, David B. Goldstein, Patricia Dugan, Dmitry Tchapyjnikov, Cecilia Fernandes, Arjune Sen, Danielle M. Andrade, Erin Heinzen, Joseph Hostyk, Hyunmi Choi, Marta Amengual-Gual, Linh Tran, Gianpiero L. Cavalleri, Tobias Loddenkemper, Piero Perucca, Chantal Depondt, Orrin Devinsky, Justice Clark
المصدر: American Journal of Medical Genetics Part A. 188:138-146
مصطلحات موضوعية: Epilepsy, Genomics, Single gene, Status epilepticus, Jeavons syndrome, Biology, medicine.disease, Bioinformatics, MECP2, Phenotype, Genetics, medicine, Genomic architecture, Humans, Epilepsy, Generalized, Exome, medicine.symptom, Child, International league against epilepsy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4808ebc2257486b0b9b058ac9b41ba12Test
https://doi.org/10.1002/ajmg.a.62505Test -
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المؤلفون: Yu.M. Sirenko
المصدر: HYPERTENSION. 14:17-21
مصطلحات موضوعية: medicine.diagnostic_test, business.industry, Clinical course, Secondary hypertension, Single gene, Drug resistance, 030204 cardiovascular system & hematology, medicine.disease, Bioinformatics, Phenotype, 03 medical and health sciences, 0302 clinical medicine, Blood pressure, medicine, 030212 general & internal medicine, business, Hormone, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ee3d45a848d0697f1059967598d9f40Test
https://doi.org/10.22141/2224-1485.14.1.2021.227396Test -
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المؤلفون: Shagun Aggarwal
المصدر: Current Opinion in Obstetrics & Gynecology. 33:112-122
مصطلحات موضوعية: Genetic syndromes, Single-Gene Defects, Prenatal diagnosis, Bioinformatics, 03 medical and health sciences, symbols.namesake, Fetus, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Humans, Medicine, Genetic Testing, Mendelian disorders, Exome sequencing, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Syndrome, Optimal management, Phenotype, 030220 oncology & carcinogenesis, Mendelian inheritance, symbols, Female, Genetic diagnosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb23abebb0d72ba54ca409a2c8e8ce57Test
https://doi.org/10.1097/gco.0000000000000688Test -
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المصدر: The Lancet Neurology. 19:361-368
مصطلحات موضوعية: 0301 basic medicine, Disease onset, Prions, business.industry, Disease agent, Neurodegenerative Diseases, Single gene, Disease, Bioinformatics, Prion Proteins, Prion Diseases, nervous system diseases, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Animals, Humans, Medicine, Neurology (clinical), Prion protein, Age of onset, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fbf7ed281f49818b6a4238e7c60d87eTest
https://doi.org/10.1016/s1474-4422Test(19)30403-x -
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المؤلفون: Mary Petrou, Anthony Cutts, Barnaby Clark, Dimitrios V Vavoulis, Anna Schuh, Frances Smith, Shirley Henderson
المصدر: Blood. 134:1190-1193
مصطلحات موضوعية: Single-Gene Defects, Noninvasive Prenatal Testing, Immunology, Genes, Recessive, Prenatal diagnosis, Anemia, Sickle Cell, Bioinformatics, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Humans, Medicine, 030212 general & internal medicine, Letter to Blood, 030219 obstetrics & reproductive medicine, business.industry, High-Throughput Nucleotide Sequencing, Cell Biology, Hematology, medicine.disease, Sickle cell anemia, Cell-free fetal DNA, chemistry, Female, business, Cell-Free Nucleic Acids, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3adc14981418ca25d2387cdb2a52c024Test
https://doi.org/10.1182/blood.2019002099Test -
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المؤلفون: P. Dundy Sai Maruthi, V. Uday Kumar, P. Viswa Teja, A. Venkata Sai
المصدر: 2021 2nd International Conference on Smart Electronics and Communication (ICOSEC).
مصطلحات موضوعية: Causes of autism, Motor planning, Autism spectrum disorder, business.industry, medicine, Autism, Single gene, HELSMOORTEL-VAN DER AA SYNDROME, Neurological disorder, Family history, medicine.disease, Bioinformatics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::733f58bb8f3fb5d7f2797b30ee26ff3eTest
https://doi.org/10.1109/icosec51865.2021.9591933Test -
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المؤلفون: Mary E. Norton, Anne H. Mardy
المصدر: Clinical obstetrics and gynecology. 64(4)
مصطلحات موضوعية: Fetal Therapies, business.industry, Genetic enhancement, Immunologic Deficiency Syndromes, Obstetrics and Gynecology, Single gene, Genetic Therapy, Bioinformatics, In utero, Pregnancy, Etiology, Medicine, Humans, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f88546ca6ee67163a0492900423f4f7Test
https://pubmed.ncbi.nlm.nih.gov/34482336Test