المؤلفون: Barna Goswami, Asifur Rahman, Iffat Jahan, Shahina Akter, Tanjina Akhtar Banu, Eshrar Osman, Mohammad Samir Uzzaman, Ahashan Habib, Md Shamsul Alam, Abu Saleh Mohammad Abu Obaida, Md Murshed Hasan Sarkar, Salim Khan

المصدر: Heliyon, Vol 10, Iss 15, Pp e34929- (2024)

مصطلحات موضوعية: Frontonasal dysplasia type 2 (FND2), Whole genome sequencing (WGS), ALX4, Computed tomography (CT), Magnetic resonance imaging (MRI), Online Mendelian Inheritance in man (OMIM), Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024109607; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/de8c45b61105499b996493f7f1132f8e

المؤلفون: Ying Cao, Jialin Lu, Yue Chen, Peijuan Wang, Jingyao She, Xuan Han

المصدر: Bioengineered, Vol 12, Iss 2, Pp 10345-10362 (2021)
Bioengineered
article-version (VoR) Version of Record

مصطلحات موضوعية: premature ovarian insufficiency, bushen huoxue, AKT1, Administration, Oral, Bioengineering, Smad Proteins, Computational biology, Biology, Primary Ovarian Insufficiency, Premature ovarian insufficiency, Applied Microbiology and Biotechnology, GeneCards, Transforming Growth Factor beta1, Interaction network, experimental validation, OMIM : Online Mendelian Inheritance in Man, Animals, network pharmacology, Protein Interaction Maps, KEGG, Mice, Inbred ICR, Mechanism (biology), Reproducibility of Results, General Medicine, molecular docking, Molecular Docking Simulation, Gene Ontology, Gene Expression Regulation, Thermodynamics, Female, molecular mechanism, DrugBank, TP248.13-248.65, Research Article, Research Paper, Drugs, Chinese Herbal, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89780abc21d0ac7936345e234dd861e7
https://doaj.org/article/72961efa2e264f698608279df808953b

المؤلفون: Changyu Gao, Yanan Zhang, Fengxue Li, Xiumin Zhao

المصدر: Annals of Palliative Medicine. 10:10369-10382

مصطلحات موضوعية: Advanced and Specialized Nursing, biology, business.industry, Guillain-Barre Syndrome, Bioinformatics, Hospitals, GeneCards, Prescriptions, Anesthesiology and Pain Medicine, Databases, Genetic, CEBPA, biology.protein, OMIM : Online Mendelian Inheritance in Man, Humans, Medicine, Epidermal growth factor receptor, CREB-binding protein, KEGG, business, Interleukin 6, Gene, Drugs, Chinese Herbal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e11c4a43c0df5c6a8ddc15038dc36b00
https://doi.org/10.21037/apm-21-1743

المؤلفون: Wenxiang Wang, Mei Zheng, Xiaomin Wen, Bei Song

المصدر: Translational Pediatrics. 10:2298-2306

مصطلحات موضوعية: Enzyme binding, business.industry, Extracellular exosome, Pediatrics, Perinatology and Child Health, OMIM : Online Mendelian Inheritance in Man, Medicine, Computational biology, Signal transduction, KEGG, Protein kinase A, business, Protein kinase B, GeneCards

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0832932ec154f5e3842eb838c01996a2
https://doi.org/10.21037/tp-21-348

المؤلفون: Kadiatou Diallo

مصطلحات موضوعية: Online Mendelian Inheritance in Man, Genes, Biomedical Literature, MIM Numbers

Relation: https://zenodo.org/communities/ubrite; https://doi.org/10.1093/nar/gku1205; oai:zenodo.org:8117996

الاتاحة: https://doi.org/10.1093/nar/gku1205

المؤلفون: Clair A. Francomano

المصدر: American Journal of Medical Genetics Part A. 185:3193-3201

مصطلحات موضوعية: medicine.medical_specialty, History, Genetics, Medical, education, Awards and Prizes, Genomics, History, 21st Century, symbols.namesake, Databases, Genetic, Human Genome Project, Genetics, OMIM : Online Mendelian Inheritance in Man, medicine, Humans, Clinical care, Genetics (clinical), Genome, Human, Chromosome Mapping, Biography, History, 20th Century, United States, humanities, Genealogy, Mendelian inheritance, symbols, Medical genetics, Training program

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d4818e3540517299a984a0effb9540
https://doi.org/10.1002/ajmg.a.62451

المؤلفون: Zhao-Di Yue, Yi-Bo Liu, Ren-Jie Zhao, Fangqi Wang, Shao-Hong Yu, Zhongwen Zhang, Yi Ding, Bing-Yu Du, Yan-Yan Yin, Li Li, Hui Fu

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: type 2 diabetes mellitus, Diabetic Cardiomyopathies, MAP Kinase Signaling System, Computational biology, Disease, Network Pharmacology, chemistry.chemical_compound, Glucosides, cardiovascular disease, Protein Interaction Mapping, OMIM : Online Mendelian Inheritance in Man, Humans, Medicine, Benzhydryl Compounds, Dapagliflozin, KEGG, Sodium-Glucose Transporter 2 Inhibitors, Mechanism (biology), business.industry, Type 2 Diabetes Mellitus, Original Articles, dapagliflozin, Cell Biology, Hedgehog signaling pathway, Molecular Docking Simulation, chemistry, Docking (molecular), Molecular Medicine, Original Article, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce49b4df045d87224304c58a92d75968
https://doi.org/10.1111/jcmm.16786

المؤلفون: Fanfan Hou, YaHsin Cheng, Fang Zhang, Yang Liu, Wenpeng Yan, Ni Zhang

المصدر: Evidence-Based Complementary and Alternative Medicine, Vol 2021 (2021)

مصطلحات موضوعية: 0301 basic medicine, Article Subject, biology, Mechanism (biology), Computational biology, biology.organism_classification, Molecular Docking Simulation, GeneCards, Other systems of medicine, stomatognathic diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Complementary and alternative medicine, Drug development, 030220 oncology & carcinogenesis, Cancer cell, OMIM : Online Mendelian Inheritance in Man, Scutellaria baicalensis, RZ201-999, Systems pharmacology

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b25c13604a73a6f6bb59181e8bc2375
https://doi.org/10.1155/2021/5597586

المؤلفون: Chunjie Wu, Jia Liu, Wei Peng, Xufeng Pu, Qing Zhang, Ruolan Li, Yongxiang Gao

المصدر: Tropical Journal of Pharmaceutical Research. 18:2125-2131

مصطلحات موضوعية: biology, Chemistry, In silico, Pharmaceutical Science, Computational biology, biology.organism_classification, Ligand (biochemistry), Cassia, OMIM : Online Mendelian Inheritance in Man, Pharmacology (medical), Target protein, DrugBank, Cinnamomum, Discovery Studio

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1d3a6b2f95a233f6929d21ceca6fdaf7
https://doi.org/10.4314/tjpr.v18i10.18

المؤلفون: Jasmine Y Serpen, Stephen T. Armenti, Lev Prasov

المصدر: Journal of Ophthalmology
Journal of Ophthalmology, Vol 2021 (2021)

مصطلحات موضوعية: 0301 basic medicine, Cell physiology, Innate immune system, business.industry, Review Article, Immunogenetics, RE1-994, Bioinformatics, Acquired immune system, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, Downregulation and upregulation, 030221 ophthalmology & optometry, OMIM : Online Mendelian Inheritance in Man, Medicine, business, Receptor, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728ac859ea1eb65e9e9e5f89c1a7343d
https://doi.org/10.1155/2021/6691291

المؤلفون: Joanna S. Amberger, Alan F. Scott, Ada Hamosh, Sonja A. Rasmussen, Carol A. Bocchini

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: gene‐phenotype relationship, History, Genetics, Medical, Mendelian Inheritance in Man, history of medicine, Chromosome Mapping, single‐gene conditions, Original Articles, History, 20th Century, History, 21st Century, Genealogy, Magnum opus, symbols.namesake, Databases, Genetic, Genetics, OMIM : Online Mendelian Inheritance in Man, Mendelian inheritance, symbols, Humans, Original Article, OMIM, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::743f5effb6ce30bad62953618711a740
https://doi.org/10.1002/ajmg.a.62407

المؤلفون: Kumaraswamy Naidu Chitrala, Prakash S. Nagarkatti, Mitzi Nagarkatti

المصدر: J Psychiatr Res

مصطلحات موضوعية: dbSNP, Genotype, Single-nucleotide polymorphism, Biology, Catechol O-Methyltransferase, medicine.disease_cause, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, Stress Disorders, Post-Traumatic, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, SNP, Gene, Alleles, Biological Psychiatry, Genetics, Mutation, Catechol-O-methyl transferase, 030227 psychiatry, Psychiatry and Mental health, Phenotype, 030217 neurology & neurosurgery, rs4680

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e0247bb1f06f0ade4c0fc888a18268
https://doi.org/10.1016/j.jpsychires.2021.03.048

المؤلفون: Michael F. McGovern

المصدر: The British Journal for the History of Science. 54:213-231

مصطلحات موضوعية: Value (ethics), History, medicine.medical_specialty, media_common.quotation_subject, 050905 science studies, symbols.namesake, History and Philosophy of Science, Eugenics, OMIM : Online Mendelian Inheritance in Man, medicine, 0601 history and archaeology, Sociology, media_common, business.industry, 05 social sciences, Online database, 06 humanities and the arts, Genealogy, Negotiation, 060105 history of science, technology & medicine, Mendelian inheritance, symbols, Medical genetics, Electronic publishing, 0509 other social sciences, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee953adfb762a2119670ef7c2e125836
https://doi.org/10.1017/s0007087421000224

المؤلفون: Meenakshi Choudhary, Ursula E.B. Blyth, Laurentiu Craciunas, Gavin Hudson

المصدر: Human Reproduction Update. 27:866-884

مصطلحات موضوعية: 0301 basic medicine, Non-Mendelian inheritance, Aneuploidy, Cell Cycle Proteins, Synaptonemal complex protein 3, Protein Serine-Threonine Kinases, Bioinformatics, Germline, Miscarriage, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Chromosome Segregation, Stromal antigen 3, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, medicine.disease, Abortion, Spontaneous, 030104 developmental biology, Reproductive Medicine, Oocytes, Female, business, Maternal Age

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc2e950c9a3fd8821f5a3c67a8f5af2
https://doi.org/10.1093/humupd/dmab010

المؤلفون: Zhiguo Lin, Hui Wang, Siming Dai, Meng Wang, Zhiyi Zhang, Yue Zhang

المصدر: Clinical Rheumatology. 40:4259-4268

مصطلحات موضوعية: Computational biology, GeneCards, Transcriptome, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Rheumatology, Osteoarthritis, OMIM : Online Mendelian Inheritance in Man, Humans, Medicine, 030212 general & internal medicine, KEGG, PI3K/AKT/mTOR pathway, 030203 arthritis & rheumatology, Mechanism (biology), business.industry, General Medicine, Phenotype, Molecular Docking Simulation, chemistry, Celastrol, Pentacyclic Triterpenes, business, Drugs, Chinese Herbal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::611416d88283aa1eec93a7b87091a63e
https://doi.org/10.1007/s10067-021-05726-3

المؤلفون: Sevim Türay, Recep Eröz

المساهمون: [Belirlenecek]

المصدر: Acta Neurologica Belgica. 121:749-755

مصطلحات موضوعية: Proband, Microarray, Global developmental delay, Gene mutation, Short stature, 03 medical and health sciences, 0302 clinical medicine, medicine, OMIM : Online Mendelian Inheritance in Man, 030212 general & internal medicine, Gene, Sutton syndrome, Genetics, Dysmorphia, White–, business.industry, General Medicine, SHOX gene, Hot water epilepsy, POGZ gene, Hypotonia, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::726b3d13878e2bb13c371b16a8fc2706
https://doi.org/10.1007/s13760-021-01671-9

المؤلفون: Rong Tang, Xiaohong Zhou, Hong Liu, Xiaoqing Peng, Yan Wang

المصدر: Evidence-based Complementary and Alternative Medicine : eCAM
Evidence-Based Complementary and Alternative Medicine, Vol 2021 (2021)

مصطلحات موضوعية: 0303 health sciences, Integrative bioinformatics, Article Subject, AMPK, Pharmacology, Biology, medicine.disease, GeneCards, Other systems of medicine, 03 medical and health sciences, 0302 clinical medicine, Complementary and alternative medicine, Mechanism of action, 030220 oncology & carcinogenesis, OMIM : Online Mendelian Inheritance in Man, medicine, Hyperuricemia, medicine.symptom, KEGG, RZ201-999, PI3K/AKT/mTOR pathway, Research Article, 030304 developmental biology

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b34d327b405ba93d931ee3bb9765d389
https://doi.org/10.1155/2021/5595384

المؤلفون: Guomin Si, Chengda Dong, Zunqi Kan, Hui Li, Kun Zhen, Min Peng, Min Wang, Hongshuo Shi, Hui Chang, Lujie Cui

المصدر: Annals of Palliative Medicine. 10:4747-4759

مصطلحات موضوعية: 0301 basic medicine, Advanced and Specialized Nursing, business.industry, Cellular differentiation, Cell Differentiation, Computational biology, Traditional Chinese medicine, Molecular Docking Simulation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Anesthesiology and Pain Medicine, 030228 respiratory system, Mechanism of action, medicine, OMIM : Online Mendelian Inheritance in Man, Medicine, Chinese Traditional, medicine.symptom, Signal transduction, KEGG, business, Gene, Drugs, Chinese Herbal, Signal Transduction, Systems pharmacology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64da16f89d21168aa7e20019832a33c
https://doi.org/10.21037/apm-21-802

المؤلفون: Angela Mitidieri, Melissa Alfonsi, Ludovica Mercuri, Paolo Guanciali-Franchi, Elisena Morizio, Giacinto Cuscianna, Annunziata Anna Epifania, Domenico Dell’Edera, Mario Ventura, Arianna Allegretti

المصدر: Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Journal of Medical Case Reports

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 46, XX Disorders of Sex Development, Case Report, 030105 genetics & heredity, Congenital Abnormalities, 03 medical and health sciences, Mayer-Rokitansky-Küster-Hauser syndrome, Gene duplication, OMIM : Online Mendelian Inheritance in Man, Humans, Medicine, Mayer-Rokitansky-Kuster-Hauser Syndrome, In patient, Mullerian Ducts, Gynecology, Comparative Genomic Hybridization, business.industry, General Medicine, medicine.disease, Mild learning difficulties, 030104 developmental biology, Agenesis, Vagina, Multiple congenital anomalies, Female, business, Müllerian anomalies, Chromosome 22, Comparative genomic hybridization, 22q11.2 microduplication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d64bb2eeb4d611894c52917fe15469cf
https://doaj.org/article/79f94b5d139a46d99fd0a7884f5606e0

المؤلفون: Preeti Singh, Kevin S. Hughes, Jin Wang, Sophia K. McKinley, Kush Pathak, Yujia Bao, Jingan Zhou, Kanhua Yin, Carrie C. Lubitz, Menghua Wu, Danielle Braun

المصدر: Annals of Surgical Oncology. 28:6590-6600

مصطلحات موضوعية: Candidate gene, Cancer prevention, business.industry, Medullary thyroid cancer, Cancer, medicine.disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Oncology, 030220 oncology & carcinogenesis, medicine, OMIM : Online Mendelian Inheritance in Man, 030211 gastroenterology & hepatology, Surgery, business, CHEK2, Thyroid cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1fa6b11901882566443d7281c633fc97
https://doi.org/10.1245/s10434-021-09745-x