المؤلفون: Chirayu Goswami, Michael Sheldon, Christian Bixby, Mehdi Keddache, Alexander Bogdanowicz, Yihe Wang, Jonathan Schultz, Jessica McDevitt, James LaPorta, Elaine Kwon, Steven Buyske, Dana Garbolino, Glenys Biloholowski, Alex Pastuszak, Mary Storella, Amit Bhalla, Florence Charlier-Rodriguez, Russ Hager, Robin Grimwood, Shareef A. Nahas

المصدر: BMC Infectious Diseases, Vol 22, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: COVID-19, SARS-CoV-2, Centers for Disease Control, Next generation sequencing, Reverse transcription polymerase chain reaction, Cycle threshold, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2334

URL الوصول: https://doaj.org/article/e8bee7780dda4d538db015dfa1fe10c0

المؤلفون: Nathan Salomonis, Phillip J. Dexheimer, Larsson Omberg, Robin Schroll, Stacy Bush, Jeffrey Huo, Lynn Schriml, Shannan Ho Sui, Mehdi Keddache, Christopher Mayhew, Shiva Kumar Shanmukhappa, James Wells, Kenneth Daily, Shane Hubler, Yuliang Wang, Elias Zambidis, Adam Margolin, Winston Hide, Antonis K. Hatzopoulos, Punam Malik, Jose A. Cancelas, Bruce J. Aronow, Carolyn Lutzko

المصدر: Stem Cell Reports, Vol 7, Iss 1, Pp 110-125 (2016)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671116300613; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/7257d13864d04b54a5863b5373af033d

المؤلفون: Nupur Dasgupta, You-Hai Xu, Sunghee Oh, Ying Sun, Li Jia, Mehdi Keddache, Gregory A Grabowski

المصدر: PLoS ONE, Vol 8, Iss 10, p e74912 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3790783?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/3906fe1689964fcda5bef74993202cc5

المؤلفون: Muhammad Tariq, Thanh-Tam Le, Patrick Putnam, Steven Kindel, Mehdi Keddache, Stephanie M. Ware

المصدر: Cardiogenetics, Vol 2, Iss 1, Pp e7-e7 (2012)

مصطلحات موضوعية: sequence capture, massively parallel sequencing, restrictive cardiomyopathy, desmin, missense mutation., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/559b6dbb7f6144e78ec72a5578381b5f

المؤلفون: Rachel Sheridan, Kristin Lampe, Shiva Kumar Shanmukhappa, Patrick Putnam, Mehdi Keddache, Senad Divanovic, Jorge Bezerra, Kasper Hoebe

المصدر: PLoS ONE, Vol 6, Iss 7, p e21979 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3131302?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/33e71703d69d4f61ae6f46f632937462

المؤلفون: Chirayu Goswami, Michael Sheldon, Christian Bixby, Mehdi Keddache, Alexander Bogdanowicz, Yihe Wang, Jonathan Schultz, Jessica McDevitt, James LaPorta, Elaine Kwon, Steven Buyske, Dana Garbolino, Glenys Biloholowski, Alex Pastuszak, Mary Storella, Amit Bhalla, Florence Charlier-Rodriguez, Russ Hager, Robin Grimwood, Shareef Amin Nahas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf391492e2ba2996fbed7ceba2c02ccd
https://doi.org/10.21203/rs.3.rs-1134436/v1

المؤلفون: Valerie P. O’Brien, Shlomo Shinnar, Avital Cnaan, Deborah Hirtz, Tracy A. Glauser, Katherine D. Holland, Dennis J. Dlugos, Peggy Clark, Mehdi Keddache, Lisa J. Martin, Gregory A. Grabowski

المصدر: Annals of Neurology. 81:444-453

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Lamotrigine, Pharmacology, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Childhood absence epilepsy, Internal medicine, medicine, CACNA1H, biology, business.industry, Odds ratio, medicine.disease, Crossover study, Minor allele frequency, 030104 developmental biology, Ethosuximide, Neurology, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery, Pharmacogenetics, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::293c18c37c8ec4fed5562fcbe5d32c99
https://doi.org/10.1002/ana.24886

المؤلفون: Phillip J. Dexheimer, Kristine S. Vogel, Kwangmin Choi, Hilde Brems, Jianqiang Wu, Eric Legius, Jose A. Cancelas, Yanan Yu, Mehdi Keddache, Margaret R. Wallace, Lisa J. Martin, Paul R. Andreassen, Nancy Ratner, Robert J. Spinner

المصدر: Acta Neuropathol

مصطلحات موضوعية: 0301 basic medicine, Neurofibromatosis 1, Population, Mutation, Missense, Ataxia Telangiectasia Mutated Proteins, Biology, Gene mutation, medicine.disease_cause, Germline, Article, Pathology and Forensic Medicine, Loss of heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 0302 clinical medicine, Plexiform neurofibroma, Genes, Neurofibromatosis 1, Exome Sequencing, medicine, Neurofibroma, Animals, Humans, education, Exome sequencing, Neurofibroma, Plexiform, education.field_of_study, Mutation, Fibroblasts, medicine.disease, 030104 developmental biology, Cancer research, Neurology (clinical), Schwann Cells, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a289fee013eaecff21fbe2891c7fceef
https://pubmed.ncbi.nlm.nih.gov/31664505

المؤلفون: Johannes Christiaan Maria van der Loo, Mehdi Keddache, Paritha Arumugam, Michael A. Goodman, Dennis D. Hickstein, Danielle Lynn, Phillip J. Dexheimer, Anastacia Loberg, Mohammed Nasimuzzaman, Devin Pillis, David W. Russell, Punam Malik, Thomas R. Bauer

المصدر: Journal of virology. 92(1)

مصطلحات موضوعية: 0301 basic medicine, viruses, Immunology, Genetic Vectors, Insulator (genetics), Microbiology, Proto-Oncogene Mas, Virus, Viral vector, 03 medical and health sciences, Mice, Gene Delivery, Retrovirus, Transduction, Genetic, Virology, CRISPR, Animals, Transgenes, Enhancer, Cells, Cultured, Gammaretrovirus, Adaptor Proteins, Signal Transducing, biology, Mutagenicity Tests, Terminal Repeat Sequences, Genetic Therapy, LIM Domain Proteins, biology.organism_classification, Hematopoietic Stem Cells, Long terminal repeat, Mutagenesis, Insertional, 030104 developmental biology, Insect Science, Spumavirus, Insulator Elements, CRISPR-Cas Systems

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::759ff39dabe4087e2778bef3f265441f
https://pubmed.ncbi.nlm.nih.gov/29046446

المؤلفون: Robin Schroll, Nathan Salomonis, Stacy Bush, Mehdi Keddache, Bruce J. Aronow, Carolyn Lutzko, Diana Nordling, Antonis K. Hatzopoulos, Phillip J. Dexheimer, Christopher N. Mayhew, Winston Hide, Lynn M. Schriml, Shannan J. Ho Sui, Elke Grassman, Kenneth Daily, Alexander R. Pico, Kristen K. Dang, Thanneer M. Perumal, Lorena Pantano, Punam Malik, Jose A. Cancelas, Larsson Omberg, Samad Lotia

المصدر: Scientific Data

مصطلحات موضوعية: Pluripotent Stem Cells, 0301 basic medicine, Statistics and Probability, Data Descriptor, Cell Culture Techniques, Computational biology, Biology, Library and Information Sciences, Stem cell marker, Flow cytometry, Education, 03 medical and health sciences, medicine, Animals, Humans, Induced pluripotent stem cell, Genetics, medicine.diagnostic_test, RNA sequencing, Phenotype, Computer Science Applications, Metadata, Induced pluripotent stem cells, 030104 developmental biology, Methylation analysis, Cell culture, Differentiation, DNA methylation, Data integration, Stem cell, Statistics, Probability and Uncertainty, Information Systems

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a0bb2dc16cb6be1e4ea3edc88ecdc1d

المؤلفون: Edward K. Wakeland, Susan D. Thompson, Panos Deloukas, Carol A. Wallace, Anne Hinks, Patrick Concannon, Lucy R. Wedderburn, John Bowes, David N. Glass, Sampath Prahalad, Wendy Thomson, Carl D. Langefeld, Stephen S. Rich, Sarah E. Hunt, Carlos D. Rose, Paul Martin, Sarah Edkins, K. Steel, Patrick M. Gaffney, John F. Bohnsack, Mitchell L. Onslow, Judith A. James, Milton R. Brown, Stephen L. Guthery, Marc Sudman, Satria Sajuthi, Patricia Woo, J Cobb, Joel M. Guthridge, Mary E. Comeau, Johannes-Peter Haas, Peter A. Nigrovic, Wei-Min Chen, Mehdi Keddache, Robert K Andrews, Stephen Eyre, Kathy L. Moser, Suna Onengut-Gumuscu, Miranda C. Marion

المصدر: Nature genetics

مصطلحات موضوعية: Adult, musculoskeletal diseases, Linkage disequilibrium, Genotype, Arthritis, Genome-wide association study, Disease, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Article, Pathogenesis, Receptors, CCR, 03 medical and health sciences, 0302 clinical medicine, Immune system, Gene Frequency, Risk Factors, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, skin and connective tissue diseases, Genotyping, 030304 developmental biology, 030203 arthritis & rheumatology, Autoimmune disease, 0303 health sciences, Interleukins, Chromosome Mapping, Molecular Sequence Annotation, Receptors, Interleukin, medicine.disease, Arthritis, Juvenile, 3. Good health, Genetic Loci, Case-Control Studies, Immunology, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b3333879dd09122816af50111b1cc9c
http://europepmc.org/articles/PMC3673707

المؤلفون: Francesca Menconi, Marenza Leo, Angela Lombardi, Erlinda Concepcion, Michele Marinò, Roberto Rocchi, Mehdi Keddache, David A. Greenberg, Yaron Tomer

المصدر: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 7 (2016)

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Endocrinology, Diabetes and Metabolism, Locus (genetics), Single-nucleotide polymorphism, Human leukocyte antigen, Biology, thyroid diseases, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, Endocrinology, SNP association study, Genetic predisposition to disease, Graves' disease, Italian patients, Thyroid diseases, Genetic predisposition, Genotyping, Gene, Original Research, Genetic association, genetic predisposition to disease, Genetics, lcsh:RC648-665, Diabetes and Metabolism, 030104 developmental biology, Graves’ disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc6684ff01735476b2d9c08467cc6c7
https://doi.org/10.3389/fendo.2016.00021

المؤلفون: Rebecca Lyddon, Stella Dracheva, Andrew J. Dwork, Mehdi Keddache, Larry J. Siever

المصدر: The World Journal of Biological Psychiatry. 14:590-601

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adenosine Deaminase, Prefrontal Cortex, Poison control, RNA-binding protein, Tissue Banks, Article, Cohort Studies, Internal medicine, Receptor, Serotonin, 5-HT2C, medicine, Humans, Bipolar disorder, Prefrontal cortex, Biological Psychiatry, 5-HT receptor, Depressive Disorder, Major, Sequence Analysis, RNA, RNA-Binding Proteins, Middle Aged, medicine.disease, Suicide, Psychiatry and Mental health, Endocrinology, RNA editing, Schizophrenia, Major depressive disorder, Female, RNA Editing, Psychology, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e017b926890e16e9cd33552b7c601789
https://doi.org/10.3109/15622975.2011.630406

المؤلفون: Amanda K. Huber, Eric P. Smith, Mehdi Keddache, Yaron Tomer, Mihaela S. Stefan, Weijia Zhang, Nagako Akeno

المصدر: The Journal of Immunology. 186:4693-4706

مصطلحات موضوعية: Male, Thyroiditis, endocrine system, Time Factors, endocrine system diseases, medicine.medical_treatment, Immunology, Thyroid Gland, Gene Expression, Autoimmunity, Mice, Transgenic, Inflammation, Receptor, Interferon alpha-beta, Biology, medicine.disease_cause, Article, Cell Line, Mice, Immune system, Thyroid peroxidase, medicine, Animals, Humans, Immunology and Allergy, Receptor, Cells, Cultured, Dose-Response Relationship, Drug, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Thyroid, Pattern recognition receptor, Interferon-alpha, Rats, Mice, Inbred C57BL, medicine.anatomical_structure, Immune System, Leukocytes, Mononuclear, Mice, Inbred CBA, biology.protein, Female, Thyroglobulin, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da73ed4aa1809084d835c41bf5c5b40
https://doi.org/10.4049/jimmunol.1002631

المؤلفون: Mehdi Keddache, Adrienne M. Hammill, Mary Risinger, Clinton H. Joiner, Theodosia A. Kalfa

المصدر: British Journal of Haematology. 152:780-783

مصطلحات موضوعية: biology, Nonsense mutation, Spherocytosis, Erythrocyte fragility, Hematology, medicine.disease, Compound heterozygosity, Molecular biology, Hereditary spherocytosis, Ferritin, Red blood cell, medicine.anatomical_structure, medicine, biology.protein, Band 3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::401425dae813ef6ff881d69d93e7b7d6
https://doi.org/10.1111/j.1365-2141.2010.08516.x

المؤلفون: Gitit Tomer, Lee A. Denson, Graciela Wetzler, Mehdi Keddache

المصدر: Journal of Pediatric Gastroenterology & Nutrition. 48:531-537

مصطلحات موضوعية: Male, Linkage disequilibrium, Genotype, Organic Cation Transport Proteins, Nod2 Signaling Adaptor Protein, Locus (genetics), Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Genetic analysis, Linkage Disequilibrium, Crohn Disease, Gene Frequency, Humans, Medicine, SNP, Genetic Predisposition to Disease, Child, Genotyping, Adaptor Proteins, Signal Transducing, Genetics, Symporters, business.industry, Gastroenterology, Odds ratio, Haplotypes, rab GTP-Binding Proteins, Jews, Pediatrics, Perinatology and Child Health, Cohort, Chromosomes, Human, Pair 5, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e497138bf8b140ff029360e2f98b1cd
https://doi.org/10.1097/mpg.0b013e318183138a

المؤلفون: N. Lanphear, R.I. Blough-Pfau, S. Srodulski, Mehdi Keddache, G.A. Grabowski, Jack Rubinstein, D. Fletcher, Elizabeth K. Schorry

المصدر: American Journal of Medical Genetics Part A. :2512-2519

مصطلحات موضوعية: Genotype, Mutation, Missense, medicine.disease_cause, Cohort Studies, Genetics, medicine, Missense mutation, Autistic Disorder, CREB-binding protein, EP300, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), Retrospective Studies, Rubinstein-Taybi Syndrome, Mutation, Rubinstein–Taybi syndrome, biology, Exons, medicine.disease, CREB-Binding Protein, Phenotype, Alternative Splicing, Amino Acid Substitution, Mutation testing, biology.protein, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b53b72c8ab57d36f9069a4a9ad5a4997
https://doi.org/10.1002/ajmg.a.32424

المؤلفون: Robert S. Kass, Ian W. Glaaser, Mehdi Keddache, Katherine D. Holland, Tracy A. Glauser, Gerri Buck, Miriam H. Meisler, Jennifer A. Kearney, John R. Blankston

المصدر: Neuroscience Letters. 433:65-70

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Candidate gene, DNA Mutational Analysis, Drug Resistance, Single-nucleotide polymorphism, Biology, Bioinformatics, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Sodium Channels, Cell Line, Cohort Studies, SCN3A, Epilepsy, Epilepsy, Complex Partial, Gene Frequency, NAV1.3 Voltage-Gated Sodium Channel, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Oxcarbazepine, Conserved Sequence, Brain Chemistry, Mutation, General Neuroscience, Sodium channel, Age Factors, Brain, Carbamazepine, medicine.disease, Protein Structure, Tertiary, Amino Acid Substitution, Child, Preschool, Anticonvulsants, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aecf3281354f449d79d586bcb4c3561
https://doi.org/10.1016/j.neulet.2007.12.064

المؤلفون: Tracy A, Glauser, Katherine, Holland, Valerie P, O'Brien, Mehdi, Keddache, Lisa J, Martin, Peggy O, Clark, Avital, Cnaan, Dennis, Dlugos, Deborah G, Hirtz, Shlomo, Shinnar, Gregory, Grabowski

المصدر: Annals of neurology. 81(3)

مصطلحات موضوعية: Male, ATP Binding Cassette Transporter, Subfamily B, Cross-Over Studies, Polymorphism, Genetic, Electroencephalography, Article, Calcium Channels, T-Type, Double-Blind Method, Epilepsy, Absence, Pharmacogenetics, Child, Preschool, Outcome Assessment, Health Care, Humans, Anticonvulsants, Female, Child, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::47e3e52705aa38f5c16be9f4deef5a11
https://pubmed.ncbi.nlm.nih.gov/28165634

المؤلفون: Venette Inskeep, Benjamin Liou, Gregory A. Grabowski, Kenneth D.R. Setchell, Yanyan Peng, You-Hai Xu, Manoj K. Pandey, Wujuan Zhang, Nupur Dasgupta, Ying Sun, Mehdi Keddache, Stuart Tinch, Rong-hua Li

مصطلحات موضوعية: Eukaryotic Initiation Factor-2, Mitochondrion, Biology, Glucosylceramides, Synaptic Transmission, Pathogenesis, microRNA, Genetics, medicine, Animals, RNA, Messenger, Molecular Biology, Genetics (clinical), PI3K/AKT/mTOR pathway, Neurons, Gaucher Disease, Gene Expression Profiling, TOR Serine-Threonine Kinases, Neurodegeneration, Psychosine, Brain, General Medicine, Articles, medicine.disease, Molecular biology, Axons, Cell biology, Mitochondria, Mice, Inbred C57BL, Disease Models, Animal, MicroRNAs, medicine.anatomical_structure, Phenotype, Synaptic plasticity, Neuroglia, Encephalitis, Signal transduction, Imino Pyranoses, Molecular Chaperones, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66434a5d16e319699abb88606d646031
https://europepmc.org/articles/PMC4654057/