المؤلفون: Boehler, Nicholas A

المصدر: Electronic Thesis and Dissertation Repository

مصطلحات موضوعية: Mutagenesis, heterozygosity, copy number variant, single-nucleotide polymorphism, genomic spatial statistical tool, genotyping microarray, Computational Biology

وصف الملف: application/pdf

Relation: https://ir.lib.uwo.ca/etd/7296; https://ir.lib.uwo.ca/context/etd/article/9784/viewcontent/BoehlerNicholasFinalMScThesisFinal.pdf

الاتاحة: https://ir.lib.uwo.ca/etd/7296
https://ir.lib.uwo.ca/context/etd/article/9784/viewcontent/BoehlerNicholasFinalMScThesisFinal.pdf

المؤلفون: Agapito G, Botta C, Guzzi PH, Arbitrio M, Di Martino MT, Tassone P, Tagliaferri P, Cannataro M

المساهمون: Agapito G, Botta C, Guzzi PH, Arbitrio M, Di Martino MT, Tassone P, Tagliaferri P, Cannataro M

مصطلحات موضوعية: genotyping microarray, ADME gene, pharmacogenomic, overall survival, progression-free survival

Relation: info:eu-repo/semantics/altIdentifier/pmid/27669316; volume:5; issue:4; firstpage:24; numberofpages:16; journal:MICROARRAYS; http://hdl.handle.net/10447/512802

الاتاحة: http://hdl.handle.net/10447/512802
https://doi.org/10.3390/microarrays5040024

المؤلفون: Vozzi D., Aaspollu A., Athanasakis E., Berto A., Fabretto A., Licastro D., Kulm M., Testa F., Vahter M., Ziviello C., Simonelli F., Banfi S., Gasparini P., TREVISI, PATRIZIA, MARTINI, ALESSANDRO

المساهمون: Vozzi, D., Aaspollu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Kulm, M., Testa, F., Trevisi, Patrizia, Vahter, M., Ziviello, C., Martini, Alessandro, Simonelli, F., Banfi, S., Gasparini, P.

مصطلحات موضوعية: Usher Syndrome, Apex-based genotyping approach, molecular assessment, SYNDROME-TYPE-II, SYNDROME TYPE 1F, GENOTYPING MICROARRAY, GENETIC-HETEROGENEITY, CAUSE DEAFNESS

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21738395; info:eu-repo/semantics/altIdentifier/wos/WOS:000292055100001; volume:17; issue:184-185; firstpage:1662; lastpage:1668; numberofpages:6; journal:MOLECULAR VISION; http://hdl.handle.net/11577/2525829; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960011547

الاتاحة: http://hdl.handle.net/11577/2525829

المؤلفون: David Russell (8406225), Carmen Reedy (9992042), Stephen Turner (100774), Stephanie Guertin (11409290), Mary Heaton (11409021), Jessica Bouchet (11409023), Michelle Peck (11409027), Erin Gorden (11409030), Elayna Ciuzio (11409033), Christina Neal (11409036)

مصطلحات موضوعية: Forensic Biology, Genetic genealogy, forensics, developmental validation, SNP genotyping microarray data, DNA testing

Relation: https://figshare.com/articles/poster/Developmental_Validation_of_the_Illumina_Infinium_Assay_using_the_Global_Screening_Array_GSA_on_the_iScan_System_for_use_in_Forensic_Laboratories/16589771

الاتاحة: https://doi.org/10.6084/m9.figshare.16589771.v2

المؤلفون: Scholz, Claus-Jürgen, Weber, Heike, Jungwirth, Susanne, Danielczyk, Walter, Reif, Andreas, Tragl, Karl-Heinz, Fischer, Peter, Riederer, Peter, Deckert, Jürgen, Grünblatt, Edna

المصدر: Scholz, Claus-Jürgen; Weber, Heike; Jungwirth, Susanne; Danielczyk, Walter; Reif, Andreas; Tragl, Karl-Heinz; Fischer, Peter; Riederer, Peter; Deckert, Jürgen; Grünblatt, Edna (2018). Explorative results from multistep screening for potential genetic risk loci of Alzheimer's disease in the longitudinal VITA study cohort. Journal of Neural Transmission, 125(1):77-87.

مصطلحات موضوعية: Department of Child and Adolescent Psychiatry, 610 Medicine & health, Alzheimer’s disease, Candidate gene identification, Cohort study, Genotyping microarray, Pooled DNA analysis

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/141256/1/Scholz_et_al_2017__Explorative_results_from_multistep_screening_for_potential_genetic.pdf; info:pmid/29027019; urn:issn:0300-9564

الاتاحة: https://www.zora.uzh.ch/id/eprint/141256/
https://www.zora.uzh.ch/id/eprint/141256/1/Scholz_et_al_2017__Explorative_results_from_multistep_screening_for_potential_genetic.pdf

المؤلفون: Susanne Jungwirth, Jürgen Deckert, Karl Heinz Tragl, Heike Weber, Walter Danielczyk, Peter Riederer, Claus Jürgen Scholz, Peter Fischer, Edna Grünblatt, Andreas Reif

المساهمون: University of Zurich, Grünblatt, Edna

المصدر: Journal of neural transmission (Vienna, Austria : 1996). 125(1)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Pathology, Aging, Pooled DNA analysis, 610 Medicine & health, Disease, Cohort Studies, 2738 Psychiatry and Mental Health, Genotyping microarray, 03 medical and health sciences, Alzheimer Disease, Internal medicine, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Longitudinal Studies, Allele frequency, Candidate gene identification, Biological Psychiatry, Aged, Aged, 80 and over, business.industry, Cell morphogenesis, 10058 Department of Child and Adolescent Psychiatry, Heritability, Psychiatry and Mental health, 2728 Neurology (clinical), 030104 developmental biology, Neurology, Genetic Loci, 2808 Neurology, Austria, Cohort, Etiology, Female, Neurology (clinical), Cohort study, business, 2803 Biological Psychiatry, Alzheimer’s disease

وصف الملف: Scholz_et_al_2017__Explorative_results_from_multistep_screening_for_potential_genetic.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358b9be6ac31c0f91cca032b7249cf54
https://pubmed.ncbi.nlm.nih.gov/29027019

المؤلفون: Yang, Yin, Yang, Yeming, Huang, Lulin, Zhai, Yaru, Li, Jie, Jiang, Zhilin, Gong, Bo, Fang, Hao, Kim, Ramasamy, Yang, Zhenglin, Sundaresan, Periasamy, Zhu, Xianjun, Zhou, Yu

مصطلحات موضوعية: LEBER CONGENITAL AMAUROSIS, INHERITED RETINAL DYSTROPHIES, GENOTYPING MICROARRAY, MOLECULAR-GENETICS, DROSOPHILA-CRUMBS, SPANISH FAMILIES, GENES, DISEASES, HOMOLOG, LECTURE, Science & Technology - Other Topics, Multidisciplinary Sciences

Relation: SCIENTIFIC REPORTS; http://ir.imde.ac.cn/handle/131551/22613

الاتاحة: http://ir.imde.ac.cn/handle/131551/22613
https://doi.org/10.1038/srep33681

المؤلفون: Yang, Liping, Yin, Xiaobei, Wu, Lemeng, Chen, Ningning, Zhang, Huirong, Li, Genlin, Ma, Zhizhong

المساهمون: Ma, ZZ (reprint author), Peking Univ, Minist Educ, Key Lab Vis Loss & Restorat, Hosp 3,Dept Ophthalmol, Beijing 100871, Peoples R China., Peking Univ, Minist Educ, Key Lab Vis Loss & Restorat, Hosp 3,Dept Ophthalmol, Beijing 100871, Peoples R China., Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China.

المصدر: SCI ; PubMed

مصطلحات موضوعية: SPANISH FAMILIES, GENOTYPING MICROARRAY, SPLICING FACTOR, GENE, DISEASE, PENETRANCE, PREVALENCE, DECAY, RP11

Relation: BMJ OPEN.2013,3,(11).; 654621; http://hdl.handle.net/20.500.11897/342557; WOS:000329943700086

الاتاحة: https://hdl.handle.net/20.500.11897/342557
https://doi.org/10.1136/bmjopen-2013-004030

المؤلفون: Coppieters, Frauke, De Wilde, Bram, Lefever, Steve, De Meester, Ellen, De Rocker, Nina, Van Cauwenbergh, Caroline, Pattyn, Filip, Meire, Françoise, Leroy, Bart, Hellemans, Jan, Vandesompele, Jo, De Baere, Elfride

المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600

مصطلحات موضوعية: Medicine and Health Sciences, MUTATIONS, DNA-SEQUENCE, VISUAL FUNCTION, MODIFIER ALLELES, RETINAL DYSTROPHIES, GENOTYPING MICROARRAY, GENE-THERAPY, qPCR, molecular diagnosis, massively parallel sequencing, Leber congenital amaurosis, MODEL, PLATFORMS, CAPTURE

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/2134021; http://hdl.handle.net/1854/LU-2134021; http://dx.doi.org/10.1038/gim.2011.51; https://biblio.ugent.be/publication/2134021/file/2134053

الاتاحة: https://biblio.ugent.be/publication/2134021
http://hdl.handle.net/1854/LU-2134021
https://doi.org/10.1038/gim.2011.51
https://biblio.ugent.be/publication/2134021/file/2134053

المؤلفون: Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, MEERSSCHAUT, VALERIE, WALRAEDT, SOPHIE, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart, De Baere, Elfride

المصدر: HUMAN MUTATION ; ISSN: 1059-7794

مصطلحات موضوعية: Medicine and Health Sciences, AHI1, LEBER CONGENITAL AMAUROSIS, genotype-phenotype correlation, SEVERE RETINAL DYSTROPHY, SYNDROME-RELATED DISORDERS, RETINITIS-PIGMENTOSA, CENTROSOMAL PROTEIN, JOUBERT-SYNDROME, GENOTYPING MICROARRAY, MUTATION ANALYSIS, CLINICAL DEFINITION, MOLECULAR DIAGNOSIS, modifier, LCA, CEP290

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/1069228; http://hdl.handle.net/1854/LU-1069228; http://dx.doi.org/10.1002/humu.21336; https://biblio.ugent.be/publication/1069228/file/1069279

الاتاحة: https://biblio.ugent.be/publication/1069228
http://hdl.handle.net/1854/LU-1069228
https://doi.org/10.1002/humu.21336
https://biblio.ugent.be/publication/1069228/file/1069279

المؤلفون: Federico Innocenti, Eric L. Seiser

المصدر: Cancer Informatics, Vol 2014, Iss Suppl. 7, Pp 77-83 (2015)
Cancer Informatics, Vol 13s7 (2014)
Cancer Informatics

مصطلحات موضوعية: Cancer Research, Microarray, business.industry, Microarray analysis techniques, copy number variation, Genomics, Review, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, lcsh:RC254-282, genotyping microarray, Oncology, Genotype, Medicine, Copy-number variation, DNA microarray, Hidden Markov model, business, hidden Markov model, Algorithm, Genotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fb5e5ffeb5425eea3f7fd36c9d017b
https://doi.org/10.4137/cin.s16345

المؤلفون: Richards, Stephen Malone

المساهمون: Cooper, Alan, School of Earth and Environmental Sciences

مصطلحات موضوعية: Ancient DNA, next generation sequencing, high-density genotyping microarray, hybridization capture, isothermal amplification, bison

وصف الملف: application/pdf

Relation: http://hdl.handle.net/2440/100765

الاتاحة: http://hdl.handle.net/2440/100765

المؤلفون: Vozzi, D., Aaspõllu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Külm, M., Testa, F., Trevisi, P., Vahter, M., Ziviello, C., Martini, A., Simonelli, F., Sandro BANFI, Gasparini, P.

المساهمون: Vozzi, D, Aaspõllu, A, Athanasakis, E, Berto, A, Fabretto, A, Licastro, D, Külm, M, Testa, Francesco, Trevisi, P, Vahter, M, Ziviello, C, Martini, A, Simonelli, Francesca, Banfi, Sandro, Gasparini, P., Vozzi, Diego, Aaspõllu, Anu, Athanasakis, Emmanouil, Berto, Anna, Fabretto, Antonella, Licastro, Danilo, Külm, Maigi, Trevisi, Patrizia, Vahter, Marju, Ziviello, Carmela, Martini, Alessandro, Gasparini, Paolo

المصدر: Scopus-Elsevier
Europe PubMed Central
Molecular Vision

مصطلحات موضوعية: Heterozygote, Usher Syndrome, Apex-based genotyping approach, molecular assessment, SYNDROME-TYPE-II, SYNDROME TYPE 1F, GENOTYPING MICROARRAY, GENETIC-HETEROGENEITY, CAUSE DEAFNESS, Genotype, DNA Mutational Analysis, Severity of Illness Index, Genetic Heterogeneity, otorhinolaryngologic diseases, Humans, Age of Onset, Hearing Loss, Alleles, Oligonucleotide Array Sequence Analysis, Molecular Epidemiology, Homozygote, Ophthalmology, Phenotype, Italy, Mutation, Usher Syndromes, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b3ac0df646e36aaf8ed07dd337750bfa
http://www.scopus.com/inward/record.url?eid=2-s2.0-79960011547&partnerID=MN8TOARS