المؤلفون: Grady, DL, Chi, H-C, Ding, Y-C, Smith, M, Wang, E, Schuck, S, Flodman, P, Spence, MA, Swanson, JM, Moyzis, RK

المصدر: Molecular Psychiatry. 8(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Biological Psychology, Clinical and Health Psychology, Clinical Sciences, Psychology, Mental Health, Genetics, Pediatric, Genetic Testing, Neurosciences, Brain Disorders, Attention Deficit Hyperactivity Disorder (ADHD), Human Genome, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Sequence, Attention Deficit Disorder with Hyperactivity, Base Sequence, Child, Genetic Heterogeneity, Genetic Predisposition to Disease, Haplotypes, Humans, Molecular Sequence Data, Phenotype, Prevalence, Receptors, Dopamine D2, Receptors, Dopamine D4, DRD4, ADHD, cSNPs, allelic heterogeneity, common variant-common disorder (CVCD) hypothesis, Allelic heterogeneity, Common variant-common disorder (CVCD) hypothesis, dopamine 2 receptor, dopamine 4 receptor, allele, amino acid sequence, article, attention deficit disorder, child, childhood disease, DNA sequence, female, gene linkage disequilibrium, genetic association, genetic disorder, genetic heterogeneity, genetic predisposition, genetics, haplotype, human, major clinical study, male, molecular genetics, nucleotide sequence, phenotype, prevalence, priority journal, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4w93z8swTest

المؤلفون: Jiahui Wang, Mingyang Lu, Mingsheng Zhang, Haitham Ashoor, Ryan Musich, Chao Zhang, Sheng Li, Xiaowen Chen

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports

مصطلحات موضوعية: Epigenomics, 2019-20 coronavirus outbreak, Tumour heterogeneity, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Science, Population, Computational biology, Biology, Article, Epigenesis, Genetic, Bioconductor, Genetic Heterogeneity, Neoplasms, Tumor Microenvironment, Humans, Gene Regulatory Networks, Epigenetics, education, education.field_of_study, Polymorphism, Genetic, Multidisciplinary, Gene Expression Profiling, Computational Biology, Myeloid leukemia, Gene Expression Regulation, Neoplastic, Medicine, Allelic heterogeneity, Software, Biological network

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee56d8a575e95419990b3003364b77afTest
https://doaj.orgTest/article/1a0da502471b4ef1aa309738a04bf2be

المؤلفون: Jacinta Bustamante

المصدر: Hum Genet

مصطلحات موضوعية: medicine.drug_class, Biology, Antimycobacterial, Article, Mycobacterium, Genetic Heterogeneity, Interferon-gamma, 03 medical and health sciences, symbols.namesake, Immunity, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene, Genetics (clinical), 030304 developmental biology, Mycobacterium Infections, 0303 health sciences, Genetic heterogeneity, 030305 genetics & heredity, Genetic Diseases, Inborn, Penetrance, Human genetics, Host-Pathogen Interactions, Mendelian inheritance, symbols, Allelic heterogeneity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0532967e96dd58ebf0839762b8fa8beaTest
https://doi.org/10.1007/s00439-020-02120-yTest

المؤلفون: Chakraborty, Mahul, Emerson, J. J., Macdonald, Stuart J., Long, Anthony D.

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Evolution, Science, Quantitative Trait Loci, General Physics and Astronomy, Evolutionary biology, Genomics, Quantitative trait locus, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, Euchromatin, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Animals, Allele, lcsh:Science, Allele frequency, Genetics, Multidisciplinary, Gene Expression Profiling, fungi, General Chemistry, Minor allele frequency, Drosophila melanogaster, Phenotype, 030104 developmental biology, Genomic Structural Variation, Heritable quantitative trait, Female, Allelic heterogeneity, lcsh:Q, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d56e3a31ee706757cb7318951550a9Test
https://doaj.orgTest/article/96ea71b67269422fb3fcaaf4399db70f

المؤلفون: Martino Ruggieri, Giovanna Morello, Sebastiano Cavallaro, Valentina La Cognata, Agata Polizzi, Maria Guarnaccia

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 10064, p 10064 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 18
International journal of molecular sciences
22 (2021). doi:10.3390/ijms221810064
info:cnr-pdr/source/autori:Valentina La Cognata; Maria Guarnaccia; Giovanna Morello; Martino Ruggieri; Agata Polizzi; Sebastiano Cavallaro;/titolo:Design and validation of a custom ngs panel targeting a set of lysosomal storage diseases candidate for nbs applications/doi:10.3390%2Fijms221810064/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:22

مصطلحات موضوعية: Delayed Diagnosis, Diagnostic methods, newborn screening (NBS), QH301-705.5, Computational biology, Polymorphism, Single Nucleotide, Article, Catalysis, lysosomal storage disease (LSDs), Inorganic Chemistry, Neonatal Screening, Humans, Medicine, False Positive Reactions, Genetic Predisposition to Disease, Physical and Theoretical Chemistry, Biology (General), Molecular Biology, QD1-999, Spectroscopy, Gene Library, Newborn screening, Heterogeneous group, business.industry, Organic Chemistry, Infant, Newborn, Genetic Variation, High-Throughput Nucleotide Sequencing, Reproducibility of Results, General Medicine, Penetrance, Computer Science Applications, Lysosomal Storage Diseases, Chemistry, Gene Expression Regulation, Mutation, Diagnostic validity, targeted next-generation sequencing (tNGS), Allelic heterogeneity, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03ed369a5c14783d27e8cc56f9fd083eTest
https://www.mdpi.com/1422-0067/22/18/10064Test

المؤلفون: Jason Cowan, Elizabeth Jordan, Daniel D. Kinnamon, Ray E. Hershberger

المصدر: Circ Res

مصطلحات موضوعية: Cardiomyopathy, Dilated, Sarcomeres, Physiology, Genomics, Context (language use), Locus (genetics), Biology, complex mixtures, Article, Cohort Studies, symbols.namesake, Genetic variation, medicine, Humans, Connectin, cardiovascular diseases, Alleles, Models, Statistical, Genetic Variation, Dilated cardiomyopathy, medicine.disease, musculoskeletal system, Genetic architecture, Cross-Sectional Studies, Phenotype, Evolutionary biology, Genetic Loci, Mendelian inheritance, symbols, cardiovascular system, Allelic heterogeneity, Gene-Environment Interaction, Cardiology and Cardiovascular Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46dce01e293ece90557c5d9e20dbe3abTest
https://europepmc.org/articles/PMC8158434Test/

المؤلفون: Katherine A. Fitzgerald, Nikolaos A. Patsopoulos, Jacob L. McCauley, Clara P. Manrique, Peter A. Calabresi, Ashley Beecham, P. L. De Jager, David V. Conti, Brett T. Lund, Adam Santaniello, Noriko Isobe, Angel Chinea, C. Rubi, Sylvia Delgado, Manuel Comabella, Esteban G. Burchard, Jorge R. Oksenberg, Lilyana Amezcua, Gary W. Beecham

المصدر: Mult Scler
Multiple sclerosis (Houndmills, Basingstoke, England), vol 26, iss 11

مصطلحات موضوعية: Multiple Sclerosis, Clinical Sciences, risk score, Neurodegenerative, Biology, Autoimmune Disease, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Clinical Research, Locus heterogeneity, multi-ethnic, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, Genetic Testing, Polymorphism, Aetiology, Alleles, 030304 developmental biology, African american, 0303 health sciences, Genetic diversity, Neurology & Neurosurgery, Framingham Risk Score, locus heterogeneity, allelic heterogeneity, Multiple sclerosis, Human Genome, Neurosciences, Genetic Variation, Single Nucleotide, Hispanic or Latino, Pathway analysis, medicine.disease, Genetic architecture, United States, pathway analysis, Brain Disorders, Black or African American, Neurology, Evolutionary biology, admixture, Allelic heterogeneity, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e2037fe5ca9612fc3e6b5262137974Test
https://pubmed.ncbi.nlm.nih.gov/31368393Test

المؤلفون: Katta M. Girisha, Naveenchandra M. Shetty, Anju Shukla, Shruti Pande, Periyasamy Radhakrishnan

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Microcephaly, 030105 genetics & heredity, Biology, Microphthalmia, Article, Congenital Abnormalities, 03 medical and health sciences, Young Adult, Fetus, HHAT, Holoprosencephaly, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Exome sequencing, Infant, Newborn, Infant, medicine.disease, Pedigree, Fetal Diseases, 030104 developmental biology, Agenesis, Child, Preschool, Allelic heterogeneity, Female, Acyltransferases, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57e44831f84711e3690548275778081Test
https://pubmed.ncbi.nlm.nih.gov/33749989Test

المؤلفون: Ayesha Imtiaz, Atteeq U. Rehman, Asma A. Khan, Robert J. Morell, Deborah A. Nickerson, Khurram Liaqat, Saima Riazuddin, Isabelle Schrauwen, Muhammad Ansar, Anushree Acharya, Shahid Niaz Khan, Takla C, Rafeeq M, Saba Zafar, Wasim Ahmad, Izoduwa Abbe, Kwanghyuk Lee, Taimur Chaudhry, Imen Chakchouk, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Santos-Cortez Rlp, Mohsin Shahzad, Michael J. Bamshad, Elodie Richard, Zubair M. Ahmed

المصدر: Human Mutation. 40:53-72

مصطلحات موضوعية: Male, Hearing loss, Genetic counseling, Genes, Recessive, Pedigree chart, Biology, Compound heterozygosity, Article, Consanguinity, 03 medical and health sciences, Chromosome Segregation, otorhinolaryngologic diseases, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Pakistan, Hearing Loss, Genotyping, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Human genetics, Pedigree, Mutation, Female, Allelic heterogeneity, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::831ca66fca170b9387b432d0d9e4036dTest
https://doi.org/10.1002/humu.23666Test

المؤلفون: Carla Nishimura, Sean S. Ephraim, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, Terry A. Braun, Richard J.H. Smith, Michael J. Schnieders, Kevin T. Booth, Elizabeth A. Black-Ziegelbein, Hela Azaiez, Diana L. Kolbe, Bradley Crone, Thomas L. Casavant

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, genetic variant, Hearing loss, precision medicine, Computational biology, Biology, Deafness, Article, 03 medical and health sciences, Gene Frequency, Databases, Genetic, Genetics, medicine, Humans, variant classification, Hearing Loss, Gene, Uncertain significance, Genetics (clinical), database, Genetic variants, genomic landscape, mutational signature, Genomics, Precision medicine, Phenotype, Minor allele frequency, 030104 developmental biology, Mutation, Allelic heterogeneity, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffe1da6f41335bb3b5f4f7f48ed6defTest
http://europepmc.org/articles/PMC6174355Test