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1دورية أكاديمية
المؤلفون: Yang, Xiang, Touraine, Philippe, Desai, Swapna, Humphreys, Gregory, Jiang, Huaiyang, Yatsenko, Alexander, Rajkovic, Aleksandar
المصدر: Journal of Assisted Reproduction and Genetics. 36(1)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Clinical Research, Ovarian Cancer, Biotechnology, Rare Diseases, Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Exome, Female, Genetic Variation, Humans, Minichromosome Maintenance Proteins, Nuclear Proteins, Phosphotransferases (Phosphomutases), Primary Ovarian Insufficiency, Trans-Activators, Exome Sequencing, Premature ovarian insufficiency, Whole-exome sequencing, Gene variants, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, Reproductive medicine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4st5j479
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2دورية أكاديمية
المؤلفون: Harding, Kimberly, Mersha, Tesfaye B, Pham, Phuong-Thu, Waterman, Amy D, Webb, Fern J, Vassalotti, Joseph A, Nicholas, Susanne B
المصدر: American Journal of Nephrology. 46(2)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Transplantation, Genetics, Prevention, Health Services, Clinical Research, Kidney Disease, Cancer, Behavioral and Social Science, Generic health relevance, Renal and urogenital, Good Health and Well Being, Black or African American, Genetic Testing, Graft Rejection, Health Policy, Health Services Accessibility, Healthcare Disparities, Humans, Kidney Failure, Chronic, Kidney Transplantation, Patient Education as Topic, Treatment Outcome, United States, Kidney transplantation, Health disparities, African American, Donor, Outcome, Gene variants, Call to action, Education, Urology & Nephrology, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3j72t5gx
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3دورية أكاديمية
المؤلفون: Wall, Tamara L, Luczak, Susan E, Hiller-Sturmhöfel, Susanne
المصدر: Alcohol Research. 38(1)
مصطلحات موضوعية: Applied and Developmental Psychology, Social and Personality Psychology, Public Health, Health Sciences, Psychology, Alcoholism, Alcohol Use and Health, Prevention, Brain Disorders, Clinical Research, Substance Misuse, Genetics, Mental health, Good Health and Well Being, Adult Survivors of Child Adverse Events, Black or African American, Alcohol Dehydrogenase, Alcohol Drinking, Alcoholism, Aldehyde Dehydrogenase, Alleles, Asian, Culture, Ethanol, Ethnicity, Family, Gene-Environment Interaction, Genetic Predisposition to Disease, Genetic Variation, Humans, Religion, Social Norms, White People, Alcohol dependence, alcohol use disorder, alcohol metabolism, alcohol-metabolizing enzymes, genetic factors, environmental factors, biological factors, gene variants, alcohol dehydrogenase, aldehyde dehydrogenase, alleles, acetaldehyde, Asians, Caucasians, Africans, Asian-American, African-American, Public health, Applied and developmental psychology, Social and personality psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7v21g408
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4دورية أكاديمية
المؤلفون: Moya, Pablo R, Dodman, Nicholas H, Timpano, Kiara R, Rubenstein, Liza M, Rana, Zaker, Fried, Ruby L, Reichardt, Louis F, Heiman, Gary A, Tischfield, Jay A, King, Robert A, Galdzicka, Marzena, Ginns, Edward I, Wendland, Jens R
المصدر: European Journal of Human Genetics. 21(8)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Anxiety Disorders, Brain Disorders, Serious Mental Illness, Neurosciences, Clinical Research, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adult, Antigens, CD, Blotting, Western, Cadherins, DNA Mutational Analysis, Genotype, HEK293 Cells, Humans, Mutation, Missense, Obsessive-Compulsive Disorder, Phenotype, Psychiatric Status Rating Scales, Tourette Syndrome, Transfection, N-cadherin, CDH2, rare gene variants, canine compulsive disorder, obsessive-compulsive disorder, Tourette disorder, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/82v7396d
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5
المؤلفون: Mauricio Andrés Salinas-Santander, Víctor de Jesús Suárez-Valencia, Mayela del Ángel-Martínez, David Emmanuel Kubelis-Lopez, Natalia Aranza Zapata-Salazar, Jorge Alejandro Ocampo-Garza, Jorge Ocampo-Candiani
المصدر: Anais Brasileiros de Dermatologia v.97 n.6 2022
Anais brasileiros de dermatologia
Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
Anais Brasileiros de Dermatologia, Volume: 97, Issue: 6, Pages: 710-715, Published: 14 NOV 2022مصطلحات موضوعية: Hypopigmentation, Gene Frequency, Case-Control Studies, Vitiligo, Humans, Mexican population, CTLA-4 Antigen, Genetic Predisposition to Disease, Dermatology, Mexico, Polymorphism, Single Nucleotide, Autoimmune Diseases, CTLA4, gene variants
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53f4dd13385c9efb773fbe7eb9ee664
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962022000600710 -
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المصدر: Biochemical Society Transactions
مصطلحات موضوعية: chemotherapy resistance, IDH1, 2-hydroxyglutarate, Biology, medicine.disease_cause, gene variants, Biochemistry, Isozyme, glioma, Neoplasms, medicine, Humans, acute myeloid leukaemia, DNA, Chromosomes & Chromosomal Structure, Review Articles, Gene, Diagnostics & Biomarkers, Loss function, Cancer, Genetics, Mutation, medicine.disease, Therapeutics & Molecular Medicine, Isocitrate Dehydrogenase, Isoenzymes, Isocitrate dehydrogenase, isocitrate dehydrogenase mutations, Carcinogenesis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9643954079291bc86396eebcf315a5f8
https://doi.org/10.1042/bst20210277 -
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المؤلفون: Naoko Saito Sato, Kyoichi Mizuno, Kuniya Asai, Wataru Shimizu, Kosuke Mozawa, Kotoka Nakamura, Toshiaki Otsuka, Eitaro Kodani, Eiichiro Oka, Roberta A. Gottlieb, Tsunenori Saito, Akiko Adachi, Yoshihiro Sasaki
المصدر: ESC Heart Failure, Vol 8, Iss 6, Pp 5178-5191 (2021)
ESC Heart Failureمصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Sarcomeres, medicine.medical_specialty, Pathology, Myofilament, Dilated cardiomyopathy, Initial decompensated heart failure, Sarcomere, Myofibrils, Electron microscopy, medicine, Humans, Diseases of the circulatory (Cardiovascular) system, Connectin, Genetic Testing, Gene, Myofilament changes, Genetic testing, Heart Failure, medicine.diagnostic_test, business.industry, Myocardium, Original Articles, Middle Aged, medicine.disease, Minor allele frequency, Desmoplakins, RC666-701, Heart failure, Medical genetics, Original Article, Female, Whole‐exome analysis, Causative gene variants, Carrier Proteins, Cardiology and Cardiovascular Medicine, business
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8
المؤلفون: Nicole Leibold, Marcel M.A.M. Mannens, Therese van Amelsvoort, Silvana van Koningsbruggen, Nikita van de Burgt, Leonie Behrens, Pilar Martinez-Martinez
المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Psychiatrie (9)
المصدر: Journal of psychiatric research, 138, 125-129. Elsevier Limited
Journal of Psychiatric Research, 138, 125-129. Elsevier Scienceمصطلحات موضوعية: Heterozygote, Psychosis, DISORDERS, Homocystinuria, inborn errors of metabolism, HOMOCYSTEINE, Bioinformatics, DIAGNOSIS, Gene variants, PICK TYPE-C, ACUTE INTERMITTENT PORPHYRIA, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Mass Screening, genetic disorders, HOMOCYSTINURIA, Gene, Biological Psychiatry, Likely pathogenic, Acute intermittent porphyria, next generation sequencing, WILSONS-DISEASE, business.industry, SECONDARY, MUTATIONS, Mental Disorders, High-Throughput Nucleotide Sequencing, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, MANIFESTATIONS, Underlying disease, business, Metabolism, Inborn Errors, 030217 neurology & neurosurgery, Reference genome
وصف الملف: application/pdf
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9
المؤلفون: Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Rossella Ferrante, Silvia Di Michele, Liborio Stuppia, Cristiano Rizzo, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Ines Bucci
المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 13; Pages: 8141
مصطلحات موضوعية: Biotinidase Deficiency, Neonatal Screening, Biotinidase, newborn blood spot screening, biotinidase deficiency, expanded newborn screening, inborn errors of metabolism, biotinidase gene variants, biotinidase activity, Incidence, Health, Toxicology and Mutagenesis, Mutation, Infant, Newborn, Public Health, Environmental and Occupational Health, Humans, Infant
وصف الملف: application/pdf
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10
المؤلفون: Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou, Christina Kanaka-Gantenbein
المصدر: Cells; Volume 11; Issue 13; Pages: 2088
مصطلحات موضوعية: Homeodomain Proteins, DNA Copy Number Variations, combined pituitary hormone deficiency, congenital hypopituitarism, hypogonadotropic hypogonadism, whole exome sequencing, pathogenic gene variants, Exome Sequencing, Infant, Newborn, Humans, General Medicine, Hypopituitarism
وصف الملف: application/pdf
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