المؤلفون: Xing, Pengwei

المساهمون: Chen, Xingqi, Associate Professor, Kamali-Moghaddam, Masood, Professor, Wadelius, Claes, Professor, Kristensen, Vessela, Professor

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: focal amplification, ERBB2, tumor microenvironment, chromatin accessibility, histone modification, Bioinformatik, Bioinformatics, Klinisk genetik, Clinical Genetics, Molekylär genetik, Molecular Genetics, Medicinsk genetik, Medical Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-540331
https://uu.diva-portal.org/smash/get/diva2:1905545/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1905545/PREVIEW01.jpg

المؤلفون: Mujica, Endrina

المساهمون: den Hoed, Marcel, Senior Lecturer, Emmanouilidou, Anastasia, PhD, Brooke, Hannah, PhD, Cebola, Inês, Senior Lecturer in Regulatory Genomics

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: translational genomics, cardiometabolic disease, zebrafish, CRISPR/Cas9, image-based genetic screens, Molekylär genetik, Molecular Genetics, Endocrinology and Diabetology, Endokrinologi och Diabetologi, Medicinsk genetik, Medical Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-540195
https://uu-se.zoom.us/j/65013871808
https://uu.diva-portal.org/smash/get/diva2:1904983/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1904983/PREVIEW01.jpg

المؤلفون: Nordin, Jessika, Ameur, Adam, Lindblad-Toh, Kerstin, Gyllensten, Ulf, Meadows, Jennifer R. S.

المصدر: European Journal of Human Genetics. 28(5):627-635

مصطلحات موضوعية: Bioinformatik, Bioinformatics, Molekylär genetik, Molecular Genetics, Medical Genetics, Medicinsk genetik

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-393313
https://doi.org/10.1038/s41431-019-0559-2
https://uu.diva-portal.org/smash/get/diva2:1352670/FULLTEXT01.pdf

المؤلفون: Fadista, João, Skotte, Line, Geller, Frank, Bybjerg-Grauholm, Jonas, Gørtz, Sanne, Romitti, Paul A, Caggana, Michele, Kay, Denise M, Matsson, Hans, PhD, 1973, Boyd, Heather A, Hougaard, David M, Nordenskjöld, Agneta, Mills, James L, Melbye, Mads, Feenstra, Bjarke

المصدر: Human Molecular Genetics. 28(2):332-340

مصطلحات موضوعية: Molekylär genetik, Molecular Genetics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-373444
https://doi.org/10.1093/hmg/ddy347

المؤلفون: Andreaggi, Kimberly, Bodner, Martin, Ring, Joseph D., Ameur, Adam, Gyllensten, Ulf B., Parson, Walther, Marshall, Charla, Allen, Marie

المصدر: Genes. 14(11):1989-1989

مصطلحات موضوعية: Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-516819
https://doi.org/10.3390/genes14111989
https://uu.diva-portal.org/smash/get/diva2:1815772/FULLTEXT01.pdf

المؤلفون: Gunja, Sethu Madhava Rao, 1986

المساهمون: Virtanen, Anders, Prof., von Hofsten, Jonas, Docent

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology.

مصطلحات موضوعية: PARN, Telomere biology disorders, snoRNAs, scaRNAs, TR/TERC, Zebrafish, Biology with specialization in Molecular Cell Biology, Biologi med inriktning mot molekylär cellbiologi, Molekylär genetik, Molecular Genetics, Molekylär cellbiologi, Molecular Cellbiology

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-438932
https://uu.diva-portal.org/smash/get/diva2:1540294/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1540294/PREVIEW01.jpg

المؤلفون: Wahab, Tara, Skarp, Astrid, Båverud, Viveca, Kaden, Rene, 1975

المصدر: Open Journal of Animal Sciences. 7:141-148

مصطلحات موضوعية: Zoonoses, Brucellosis, Brucella canis, Genomic Island, Molekylär genetik, Molecular Genetics, Mikrobiologi, Microbiology

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-322358
https://doi.org/10.4236/ojas.2017.72012
http://www.scirp.org/journal/PaperInformation.aspx?PaperID=75514
https://uu.diva-portal.org/smash/get/diva2:1096770/FULLTEXT01.pdf

المؤلفون: Mathioudaki, Argyri, Ph.D student, 1986, Ljungström, Viktor, 1986, Melin, Malin, Arendt, Maja Louise, Nordin, Jessika, Karlsson, Åsa, Murén, Eva, Saksena, Pushpa, Meadows, Jennifer R. S., Marinescu, Voichita D., Sjöblom, Tobias, Lindblad-Toh, Kerstin

المصدر: Scientific Reports. 10(1)

مصطلحات موضوعية: Breast cancer, PIK3CA, KMT2C, TP53, Sweden, targeted sequencing, NGS, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-390456
https://doi.org/10.1038/s41598-020-74580-1
https://uu.diva-portal.org/smash/get/diva2:1341721/FULLTEXT02.pdf

المؤلفون: Nordin, Jessika

المساهمون: Lindblad-Toh, Kerstin, Professor, Meadows, Jennifer, Webster, Matthew, Professor, Meynert, Alison, Dr.

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: Disease genetics, Ankylosing spondylitis, HLA typing, Imputation, Inference, Sex-stratified, HLA-B*27 independent, Association tests, Functional validation, Bioinformatik, Bioinformatics, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-393317
https://uu.diva-portal.org/smash/get/diva2:1354233/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1354233/PREVIEW01.jpg

المؤلفون: Mathioudaki, Argyri, Ph.D student, 1986

المساهمون: Lindblad-Toh, Kerstin, Deloukas, Panagiotis, Professor of Cardiovascular Genomics

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: ankylosing spondylitis, breast cancer, targeted sequencing, Sweden, genetics, population stratification., Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-390457
https://uu.diva-portal.org/smash/get/diva2:1341722/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1341722/PREVIEW01.jpg

المؤلفون: Kaderi, Mohd Arifin, Mansouri, Mahmoud, Zainuddin, Norafiza, 1978, Cahill, Nicola, Gunnarsson, Rebeqa, Jansson, Mattias, Kimby, Eva, Åleskog, Anna, Lundin, Jeannette, Glimelius, Bengt, Melbye, Mads, Juliusson, Gunnar, Jurlander, Jesper, Rosenquist, Richard

المصدر: Leukemia Research. 34(3):335-339

مصطلحات موضوعية: MDM2 SNP309, Chronic lymphocytic leukemia, Binet stage, IGHV mutational status, Genomic aberrations, Prognostic markers, MEDICINE, MEDICIN, Clinical Genetics, Klinisk genetik, Medicin, Medicine, Oncology, Onkologi, Medical Genetics, Medicinsk genetik, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-111075
https://uu.diva-portal.org/smash/get/diva2:279307/FULLTEXT02.pdf

المؤلفون: Arkani, Samara, Cao, Jia, Lundin, Johanna, Nilsson, Daniel, Källman, Thomas, 1976, Barker, Gillian, Holmdahl, Gundela, Clementsson Kockum, Christina, Matsson, Hans, Nordenskjöld, Agneta

المصدر: Human genome variation. 5(1)

مصطلحات موضوعية: Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-373445
https://doi.org/10.1038/hgv.2018.9
https://uu.diva-portal.org/smash/get/diva2:1301103/FULLTEXT01.pdf

المؤلفون: Fraser, Magdalena

المساهمون: Knutsson, Kjel, Professor, Jakobsson, Mattias, Professor, Wallin, Paul, Docent, Götherström, Anders, Professor, Persson, Per Åke, Försteamanuensis

المصدر: The ATLAS of Ancient Human Genomes project Aun.

مصطلحات موضوعية: archaeology, aDNA, ancient genomics, archaeogenetics, mtDNA, osteology, radiocarbon dating, Strontium, Carbon, Nitrogen, TRB, PWC, BAC, CWC, dolmen, stone cist, population demography, diet, mobility, cultural duality, admixture, kinship, Neolithic period, Early Bronze Age, Europe, Baltic Sea area, Scandinavia, Gotland, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-347559
https://uu.diva-portal.org/smash/get/diva2:1194989/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1194989/PREVIEW01.jpg

المؤلفون: Maharjan, Rajani, Backman, Samuel, Åkerström, Tobias, Hellman, Per, Björklund, Peyman

المصدر: Scientific Reports. 8

مصطلحات موضوعية: adrenocortical carcinomas, CTNNB1, mutation, β-Catenin, survival, Molekylär genetik, Molecular Genetics, Endokrinologi och Diabetologi, Endocrinology and Diabetology

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-325980
https://doi.org/10.1038/s41598-018-26799-2
https://uu.diva-portal.org/smash/get/diva2:1119015/FULLTEXT01.pdf

المؤلفون: Younis, Shady

المساهمون: Andersson, Leif, Professor, Hansson, Ola, Docent

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: ZBED6, IGF2, ZC3H11A, Muscle development, Transcriptome analysis, CRISPR/Cas9, mRNA export, Molekylär genetik, Molecular Genetics, Bioinformatik, Bioinformatics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-329190
https://uu.diva-portal.org/smash/get/diva2:1140332/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1140332/PREVIEW01.jpg

المؤلفون: Maharjan, Rajani

المساهمون: Björklund, Peyman, Dr., Luconi, Michaela, Associate Professor

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: cortisol producing adenomas, adrenocortical carcinomas, mutation, heterogeneity, PRKACA, TERT, CTNNB1, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-326149
https://uu.diva-portal.org/smash/get/diva2:1120215/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1120215/PREVIEW01.jpg

المؤلفون: Young, Emma, 1990

المساهمون: Rosenquist, Richard, Professor, Mansouri, Larry, Associate professor, Sutton, Lesley Ann, PhD, Efremov, Dimitar, Professor

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: Lymphoid malignancies, mutations, CLL, stereotypy, subsets, PMBL, NFKBIE, EGR2, whole-genome sequencing, Molekylär genetik, Molecular Genetics, Oncology, Onkologi

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-314956
https://uu.diva-portal.org/smash/get/diva2:1081342/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1081342/PREVIEW01.jpg

المؤلفون: Tengvall, Katarina, 1980

المساهمون: Lindblad-Toh, Kerstin, Professor, Andersson, Göran, Professor, Hedhammar, Åke, Professor, Rosengren Pielberg, Gerli, Researcher, Skelton Kockum, Ingrid, Docent

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: GWAS, canine model, genetic association, immunogenetics, atopic dermatitis, IgA deficiency, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-259606
https://uu.diva-portal.org/smash/get/diva2:846337/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:846337/PREVIEW01.jpg

المؤلفون: Imsland, Freyja

المساهمون: Andersson, Leif, Lindgren, Gabriella, Lindblad-Toh, Kerstin, Steingrímsson, Eiríkur, Professor

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: Structural variation, Pigmentation, Domestication, Equids, MNR2, CCDC108, STX17, TBX3, Grey, Dun, non-dun, Rose-comb, Chicken, Genetic mapping, Phenotyping, Molekylär genetik, Molecular Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-259621
https://uu.diva-portal.org/smash/get/diva2:845131/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:845131/PREVIEW01.jpg

المؤلفون: Berggren, Hanna, Tibblin, Petter, Yıldırım, Yeşerin, Broman, Elias, Larsson, Per, Lundin, Daniel, Forsman, Anders

المصدر: Frontiers in Microbiology. 12

مصطلحات موضوعية: Mikrobiologi, Microbiology, Molekylär genetik, Molecular Genetics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468496