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1دورية أكاديمية
المؤلفون: Cline, Jessie I, Belsky, Jay, Li, Zhi, Melhuish, Edward, Lysenko, Laura, McFarquhar, Tara, Stevens, Suzanne, Jaffee, Sara R
المصدر: Development and psychopathology. 27(4 Pt 1)
مصطلحات موضوعية: Humans, Genetic Predisposition to Disease, Heterozygote Detection, Adaptation, Psychological, Defense Mechanisms, Parenting, Internal-External Control, Life Change Events, Child Behavior Disorders, Genotype, Polymorphism, Genetic, Alleles, Child, Female, Male, Serotonin Plasma Membrane Transport Proteins, Genetic Linkage, Genetic Carrier Screening, Developmental & Child Psychology, Psychology, Cognitive Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0b23g6m1Test
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2دورية أكاديمية
المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience. 34(25)
مصطلحات موضوعية: Humans, Positron-Emission Tomography, Longitudinal Studies, Heterozygote Detection, Cognition, Brain Chemistry, Longevity, Genotype, Aged, Aged, 80 and over, Middle Aged, Female, Male, Apolipoprotein E4, Amyloid beta-Peptides, Gene-Environment Interaction, APOE, Alzheimer's disease, PIB-PET, aging, lifestyle activity, β-amyloid, Genetic Carrier Screening, beta-amyloid, and over, Neurology & Neurosurgery, Medical and Health Sciences, Psychology and Cognitive Sciences
الوصول الحر: https://escholarship.org/uc/item/5qw3n604Test
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3دورية أكاديمية
المؤلفون: Wu, Alan HB, Kearney, Thomas
المصدر: Journal of forensic and legal medicine. 20(8)
مصطلحات موضوعية: Humans, Fluoxetine, Bupropion, Morphine, Codeine, Cytochrome P-450 CYP2D6, Glucuronosyltransferase, Dopamine Uptake Inhibitors, Serotonin Uptake Inhibitors, Analgesics, Opioid, Pharmacogenetics, Accidents, Traffic, Genotype, Phenotype, Female, Migraine Disorders, Forensic Toxicology, Genetic Carrier Screening, Cytochrome P450, Glucuronide, UDP glucuronosyltransferase, UDP glucuronosyltransferase pharmacogenomics, Analgesics, Opioid, Accidents, Traffic, Heterozygote Detection, Genetics, Patient Safety, Legal & Forensic Medicine, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3v07848gTest
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4دورية أكاديمية
المؤلفون: Fehniger, Julia, Lin, Feng, Beattie, Mary S, Joseph, Galen, Kaplan, Celia
المصدر: Journal of genetic counseling. 22(5)
مصطلحات موضوعية: Humans, Breast Neoplasms, Heterozygote Detection, Mutation, Genes, BRCA1, Genes, BRCA2, Genetic Testing, Genetic Carrier Screening, BRCA1, BRCA2, Hereditary breast and ovarian cancer, Family communication, Family testing, Disparities, Genes, Genetics & Heredity, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1kf879jrTest
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5دورية أكاديمية
المؤلفون: Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez, Victor Trevino
المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-10 (2017)
مصطلحات موضوعية: Genetic panel, Germ-line mutation, Heterozygote detection, Systematic review, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-017-0440-5Test; https://doaj.org/toc/1471-2350Test
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6دورية أكاديمية
المؤلفون: Dobson-Stone, C, Kwok, JBJ
المساهمون: SmetNocca, C
المصدر: urn:ISSN:1064-3745 ; urn:ISSN:1940-6029 ; TAU PROTEIN: METHODS AND PROTOCOLS, 1523, 307-324
مصطلحات موضوعية: Genetics, Rare Diseases, Frontotemporal Dementia (FTD), Neurodegenerative, Dementia, Biotechnology, Genetic Testing, Acquired Cognitive Impairment, Brain Disorders, Human Genome, 2 Aetiology, 2.1 Biological and endogenous factors, Adult, DNA Mutational Analysis, Exons, Female, Frontotemporal Dementia, Humans, Introns, Mutation, Polymerase Chain Reaction, Pregnancy, RNA Splicing, Tauopathies, Exon trapping, Heterozygote detection, Sanger sequencing, pSPL3, anzsrc-for: 0399 Other Chemical Sciences, anzsrc-for: 0601 Biochemistry and Cell Biology
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1062918Test; http://hdl.handle.net/1959.4/unsworks_43935Test; https://doi.org/10.1007/978-1-4939-6598-4_19Test
الإتاحة: https://doi.org/10.1007/978-1-4939-6598-4_19Test
http://hdl.handle.net/1959.4/unsworks_43935Test -
7دورية أكاديمية
المؤلفون: Comeau, Anne Marie, Parad, Richard B., Dorkin, Henry L., Dovey, Mark, Gerstle, Robert, Haver, Kenan, Lapey, Allen, O'Sullivan, Brian P., Waltz, David A., Zwerdling, Robert G., Eaton, Roger B.
المساهمون: New England Newborn Screening Program, Department of Pediatrics
المصدر: Pediatrics ; 113 ; 6 ; 1573-81
مصطلحات موضوعية: Algorithms, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Mutational Analysis, Feasibility Studies, Female, Genetic Testing, Heterozygote Detection, Humans, Infant, Newborn, Male, Mutation, Neonatal Screening, Sensitivity and Specificity, Trypsinogen, Allergy and Immunology, Pediatrics, Respiratory Tract Diseases
العلاقة: Link to Article in PubMed; http://pediatrics.aappublications.org/content/113/6/1573.full.pdf+htmlTest; Pediatrics. 2004 Jun;113(6):1573-81.; 0031-4005 (Linking); http://hdl.handle.net/20.500.14038/43847Test; https://escholarship.umassmed.edu/peds_pulmonary/6Test; 2441366; peds_pulmonary/6
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8دورية أكاديمية
المؤلفون: Wheeler, Patricia G., Smith, Rosemarie, Dorkin, Henry L., Parad, Richard B., Comeau, Anne Marie, Bianchi, Diana W.
المساهمون: New England Newborn Screening Program, Department of Pediatrics
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics ; 3 ; 6 ; 411-5
مصطلحات موضوعية: Chlorides, Cystic Fibrosis, Electrolytes, Genetic Counseling, Genetic Testing, Genotype, Heterozygote, Heterozygote Detection, Humans, Infant, Newborn, Massachusetts, Mutation, Neonatal Screening, Pilot Projects, Referral and Consultation, Risk Factors, Sweating, Time Factors, Trypsinogen, Genetics and Genomics, Medical Genetics, Pediatrics
العلاقة: Link to Article in PubMed; http://dx.doi.org/10.1097/00125817-200111000-00006Test; Genet Med. 2001 Nov-Dec;3(6):411-5. DOi 10.1097/00125817-200111000-00006; 1098-3600 (Linking); http://hdl.handle.net/20.500.14038/43285Test; https://escholarship.umassmed.edu/peds_genetics/3Test; 2742422; peds_genetics/3
الإتاحة: https://doi.org/10.1097/00125817-200111000-00006Test
https://doi.org/20.500.14038/43285Test
https://hdl.handle.net/20.500.14038/43285Test
https://escholarship.umassmed.edu/peds_genetics/3Test -
9دورية أكاديمية
المؤلفون: Mahadeo, Kris M., Diop-Bove, Ndeye, Ramirez, Sonia I., Cadilla, Carmen L., Rivera, Enid, Martin, Madelena M., Lerner, Norma B., DiAntonio, Lisa, Duva, Salvatore, Santiago-Borrero, Pedro J., Goldman, I. David
المساهمون: Department of Pediatrics
المصدر: The Journal of pediatrics ; 159 ; 4 ; 623-7
مصطلحات موضوعية: Folic Acid, Genetic Testing, Heterozygote Detection, Hispanic Americans, Homozygote, Humans, Infant, Newborn, Malabsorption Syndromes, Mutation, Proton-Coupled Folate Transporter, Puerto Rico, Genetics and Genomics, Medical Genetics, Pediatrics
العلاقة: Link to article in PubMed; http://dx.doi.org/10.1016/j.jpeds.2011.03.005Test; J Pediatr. 2011 Oct;159(4):623-7.e1. Epub 2011 Apr 13. Link to article on publisher's website; http://hdl.handle.net/20.500.14038/43289Test; https://escholarship.umassmed.edu/peds_genetics/34Test; 2753395; peds_genetics/34
الإتاحة: https://doi.org/10.1016/j.jpeds.2011.03.005Test
https://doi.org/20.500.14038/43289Test
https://hdl.handle.net/20.500.14038/43289Test
https://escholarship.umassmed.edu/peds_genetics/34Test -
10دورية أكاديمية
المؤلفون: Vigorito, E, Kuchenbaecker, KB, Beesley, J, Adlard, J, Agnarsson, BA, Andrulis, IL, Arun, BK, Barjhoux, L, Belotti, M, Benitez, J, Berger, A, Bojesen, A, Bonanni, B, Brewer, C, Caldes, T, Caligo, MA, Campbell, I, Chan, SB, Claes, KBM, Cohn, DE, Cook, J, Daly, MB, Damiola, F, Davidson, R, Pauw, AD, Delnatte, C, Diez, O, Domchek, SM, Dumont, M, Durda, K, Dworniczak, B, Easton, DF, Eccles, D, Edwinsdotter Ardnor, C, Eeles, R, Ejlertsen, B, Ellis, S, Evans, DG, Feliubadalo, L, Fostira, F, Foulkes, WD, Friedman, E, Frost, D, Gaddam, P, Ganz, PA, Garber, J, Garcia-Barberan, V, Gauthier-Villars, M, Gehrig, A, Gerdes, A-M, Giraud, S, Godwin, AK, Goldgar, DE, Hake, CR, Hansen, TVO, Healey, S, Hodgson, S, Hogervorst, FBL, Houdayer, C, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jacobs, L, Jakubowska, A, Janavicius, R, Jaworska-Bieniek, K, Jensen, UB, John, EM, Vijai, J, Karlan, BY, Kast, K, Investigators, K, Khan, S, Kwong, A, Laitman, Y, Lester, J, Lesueur, F, Liljegren, A, Lubinski, J, Mai, PL, Manoukian, S, Mazoyer, S, Meindl, A, Mensenkamp, AR, Montagna, M, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Olah, E, Olopade, OI, Ong, K-R, Osorio, A, Park, SK, Paulsson-Karlsson, Y, Pedersen, IS, Peissel, B, Peterlongo, P, Pfeiler, G, Phelan, CM, Piedmonte, M, Poppe, B, Pujana, MA, Radice, P, Rennert, G, Rodriguez, GC, Rookus, MA, Ross, EA, Schmutzler, RK, Simard, J, Singer, CF, Slavin, TP, Soucy, P, Southey, M, Steinemann, D, Stoppa-Lyonnet, D, Sukiennicki, G, Sutter, C, Szabo, CI, Tea, M-K, Teixeira, MR, Teo, S-H, Terry, MB, Thomassen, M, Tibiletti, MG, Tihomirova, L, Tognazzo, S, van Rensburg, EJ, Varesco, L, Varon-Mateeva, R, Vratimos, A, Weitzel, JN, McGuffog, L, Kirk, J, Toland, AE, Hamann, U, Lindor, N, Ramus, SJ, Greene, MH, Couch, FJ, Offit, K, Pharoah, PDP, Chenevix-Trench, G, Antoniou, AC
المصدر: PLoS One , 11 (7) , Article e0158801. (2016)
مصطلحات موضوعية: Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Genes, BRCA1, BRCA2, Genetic Predisposition to Disease, Heterozygote Detection, Humans, Ovarian Neoplasms, Polymorphism, Single Nucleotide
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1574821/1/Kuchenbaecker_journal.pone.0158801%20%282%29.PDFTest; https://discovery.ucl.ac.uk/id/eprint/1574821Test/