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Hearing Research, ISSN 0378-5955, 09/2019, Volume 381, p. 107769
Hearing loss (HL), one of the most common congenital disorder, affects about one child in 1000. Among the genetic forms of HL, ∼30% of the cases are associated... 
Syndromic hearing loss | Targeted re-sequencing | Molecular diagnosis | Usher syndrome
Journal Article
by Turcot, Valérie and Lu, Yingchang and Highland, Heather M and Schurmann, Claudia and Justice, Anne E and Fine, Rebecca S and Bradfield, Jonathan P and Esko, Tõnu and Giri, Ayush and Graff, Mariaelisa and Guo, Xiuqing and Hendricks, Audrey E and Karaderi, Tugce and Lempradl, Adelheid and Locke, Adam E and Mahajan, Anubha and Marouli, Eirini and Sivapalaratnam, Suthesh and Young, Kristin L and Alfred, Tamuno and Feitosa, Mary F and Masca, Nicholas G. D and Manning, Alisa K and Medina-Gomez, Carolina and Mudgal, Poorva and Ng, Maggie C. Y and Reiner, Alex P and Vedantam, Sailaja and Willems, Sara M and Winkler, Thomas W and Abecasis, Gonçalo and Aben, Katja K and Alam, Dewan S and Alharthi, Sameer E and Allison, Matthew and Amouyel, Philippe and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Bang, Lia E and Barroso, Inês and Bastarache, Lisa and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boehnke, Michael and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Brumat, Marco and Burt, Amber A and Butterworth, Adam S and Campbell, Peter T and Cappellani, Stefania and Carey, David J and Catamo, Eulalia and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der I and Chowdhury, Rajiv and Christensen, Cramer and Chu, Audrey Y and Cocca, Massimiliano and Cook, James P and Corley, Janie and Corominas Galbany, Jordi and Cox, Amanda J and Crosslin, David S and Cuellar-Partida, Gabriel and D'Eustacchio, Angela and Danesh, John and Davies, Gail and Bakker, Paul I. W and Groot, Mark C. H and Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and Heijer, Martin and Hollander, Anneke I and Ruijter, Hester M and Dennis, Joe G and Denny, Josh C and Angelantonio, Emanuele and Drenos, Fotios and Du, Mengmeng and Dubé, Marie-Pierre and Dunning, Alison M and Easton, Douglas F and Edwards, Todd L and ... and Chd Exome Consortium and EPIC InterAct Consortium and Global Lipids Genetic Consortium and GoT2D Genes Consortium and MAGIC Investigators and Understanding Soc Sci Grp and ReproGen Consortium and Interval Study and Epic-Cvd Consortium and ExomeBP Consortium and T2D-Genes Consortium and INTERVAL Study and EPIC-CVD Consortium and EPIC InterAct Consortium and CHD Exome+ Consortium and Understanding Society Scientific Group and The MAGIC Investigators and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Allmänmedicin and Umeå universitet and Medicin
Nature Genetics, ISSN 1061-4036, 01/2018, Volume 50, Issue 1, pp. 26 - 35
Journal Article
by Barban, Nicola and Jansen, Rick and de Vlaming, Ronald and Vaez, Ahmad and Mandemakers, Jornt J and Tropf, Felix C and Shen, Xia and Wilson, James F and Chasman, Daniel I and Nolte, Ilja M and Tragante, Vinicius and van der Laan, Sander W and Perry, John R B and Kong, Augustine and Ahluwalia, Tarunveer S and Albrecht, Eva and Yerges-Armstrong, Laura and Atzmon, Gil and Auro, Kirsi and Ayers, Kristin and Bakshi, Anew and Ben-Avraham, Danny and Berger, Klaus and Bergman, Aviv and Bertram, Lars and Bielak, Lawrence F and Bjornsdottir, Gyda and Bonder, Marc Jan and Broer, Linda and Bui, Minh and Barbieri, Caterina and Cavadino, Alana and Chavarro, Jorge E and Turman, Constance and Concas, Maria Pina and Cordell, Heather J and Davies, Gail and Eibich, Peter and Eriksson, Nicholas and Esko, Tõnu and Eriksson, Joel and Falahi, Fahimeh and Felix, Janine F and Fontana, Mark Alan and Franke, Lude and Gandin, Ilaria and Gaskins, Auey J and Gieger, Christian and Gunderson, Erica P and Guo, Xiuqing and Hayward, Caroline and He, Chunyan and Hofer, Edith and Huang, Hongyan and Joshi, Peter K and Kanoni, Stavroula and Karlsson, Robert and Kiechl, Stefan and Kifley, Annette and Kluttig, Alexander and Kraft, Peter and Lagou, Vasiliki and Lecoeur, Cecile and Lahti, Jari and Li-Gao, Ruifang and Lind, Penelope A and Liu, Tian and Makalic, Enes and Mamasoula, Crysovalanto and Matteson, Lindsay and Mbarek, Hamdi and McArdle, Patrick F and McMahon, George and Meddens, S Fleur W and Mihailov, Evelin and Miller, Mike and Missmer, Stacey A and Monnereau, Claire and van der Most, Peter J and Myhre, Ronny and Nalls, Mike A and Nutile, Teresa and Kalafati, Ioanna Panagiota and Porcu, Eleonora and Prokopenko, Inga and Rajan, Kumar B and Rich-Edwards, Janet and Rietveld, Cornelius A and Robino, Antonietta and Rose, Lynda M and Rueedi, Rico and Ryan, Kathleen A and Saba, Yasaman and Schmidt, Daniel and Smith, Jennifer A and Stolk, Lisette and Streeten, Elizabeth and Tönjes, Anke and Thorleifsson, Gudmar and Ulivi, Sheila and ... and Bios Consortium and LifeLines Cohort Study and BIOS Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
Nature Genetics, ISSN 1061-4036, 12/2016, Volume 48, Issue 12, pp. 1462 - 1472
Journal Article
by Joshi, Peter and Esko, Tõnu and Mattsson, Hannele and Eklund, Niina and Gandin, Ilaria and Nutile, T and Jackson, Anne and Schurmann, Claudia and Smith, G.D and Zhang, Weihua and Okada, Yukinori and Stancáková, Alena and Faul, Jessica D and Zhao, Wei and Bartz, Traci M and Concas, M.P and Franceschini, Nora and Enroth, Stefan and Vitart, Veronique and Trompet, Stella and Guo, Xiuqing and Chasman, Daniel and O'Connel, Jeffrey R and Corre, Tanguy and Nongmaithem, Suraj S and Chen, Yuning and Mangino, Massimo and Ruggiero, D and Traglia, Michela and Farmaki, Aliki-Eleni and Kacprowski, Tim and Bjonnes, Anew and Spek, Ashley and Wu, Ying and Giri, Anil K and Yanek, Lisa and Wang, Lihua and Hofer, Edith and Rietveld, Niels and McLeod, Olga and Cornelis, Marilyn and Pattaro, Cristian and Verweij, Niek and Baumbach, Clemens and Abdellaoui, Abdel and Warren, Helen and Vuckovic, gana and Mei, Hao and Bouchard, Claude and Perry, John and Cappellani, Stefania and Mirza, Saira and Benton, Miles C and Broeckel, Ulrich and Medland, Sarah Elizabeth and Lind, Penelope and Malerba, Giovanni and ng, Alexander and Yengo, Loic and Bielak, Lawrence F and Zhi, Degui and Most, Peter and Shriner, Daniel and Mägi, Reedik and Hemani, G and Karaderi, Tugce and Wang, Zhaoming and Liu, Tian and Demuth, Ilja and Zhao, Jing Hua and Meng, Weihua and Lataniotis, Lazaros and Van Der Laan, Sander W and Bradfield, Jonathan and Wood, Anew and Bonnefond, Amélie and Ahluwalia, Tarunveer Singh and Hall, Leanne M and Salvi, Erika and Yazar, Seyhan and Carstensen, Lisbeth and De Haan, Hugoline G and Abney, Mark and Afzal, Uzma and Allison, Matthew and Amin, Najaf and Asselbergs, Folkert W and Bakker, Stephan and Barr, Graham and Baumeister, Sebastian and Benjamin, Daniel J and Bergmann, Sven and Boerwinkle, Eric and Bottinger, Erwin P and Campbell, Archie and Chakravarti, Aravinda and Chan, Yingleong and Chanock, Stephen and Chen, Constance and Chen, Y.-D. Ida and ... and BioBank Japan Project and The BioBank Japan Project and Science for Life Laboratory, SciLifeLab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
Nature: international weekly journal of science, ISSN 0028-0836, 07/2015, Volume 523, Issue 7561, pp. 459 - 462
textabstractHomozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that... 
INTELLIGENCE | HOMOZYGOSITY | MULTIDISCIPLINARY SCIENCES | ARCHITECTURE | GENETIC-VARIANTS | TRAITS | ASSOCIATION | BLOOD-PRESSURE | Studies | Cognition & reasoning | Disease | Genomics | Cognitive ability | Genomes | Educational attainment | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1970 - 1974
The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia,... 
19q13.32 | developmental delay | copy number variation | SNPs array | microdeletion | GENETICS & HEREDITY | Literature reviews | Penis
Journal Article
by Prins, Bram P and Mead, Timothy J and Brody, Jennifer A and Sveinbjornsson, Gardar and Ntalla, Ioanna and Bihlmeyer, Nathan A and van den Berg, Marten and Bork-Jensen, Jette and Cappellani, Stefania and Van Duijvenboden, Stefan and Klena, Nikolai T and Gabriel, George C and Liu, Xiaoqin and Gulec, Cagri and Grarup, Niels and Haessler, Jeffrey and Hall, Leanne M and Iorio, Annamaria and Isaacs, Aaron and Li-Gao, Ruifang and Lin, Honghuang and Liu, Ching-Ti and Lyytikäinen, Leo-Pekka and Marten, Jonathan and Mei, Hao and Müller-Nurasyid, Martina and Orini, Michele and Padmanabhan, Sandosh and Radmanesh, Farid and Ramirez, Julia and Robino, Antonietta and Schwartz, Molly and van Setten, Jessica and Smith, Albert V and Verweij, Niek and Warren, Helen R and Weiss, Stefan and Alonso, Alvaro and Arnar, David O and Bots, Michiel L and de Boer, Rudolf A and Dominiczak, Anna F and Eijgelsheim, Mark and Ellinor, Patrick T and Guo, Xiuqing and Felix, Stephan B and Harris, Tamara B and Hayward, Caroline and Heckbert, Susan R and Huang, Paul L and Jukema, J.W and Kähönen, Mika and Kors, Jan A and Lambiase, Pier D and Launer, Lenore J and Li, Man and Linneberg, Allan and Nelson, Christopher P and Pedersen, Oluf and Perez, Marco and Peters, Annette and Polasek, Ozren and Psaty, Bruce M and Raitakari, Olli T and Rice, Kenneth M and Rotter, Jerome I and Sinner, Moritz F and Soliman, Elsayed Z and Spector, Tim D and Strauch, Konstantin and Thorsteinsdottir, Unnur and Tinker, Andrew and Trompet, Stella and Uitterlinden, André and Vaartjes, Ilonca and van der Meer, Peter and Völker, Uwe and Völzke, Henry and Waldenberger, Melanie and Wilson, James G and Xie, Zhijun and Asselbergs, Folkert W and Dörr, Marcus and van Duijn, Cornelia M and Gasparini, Paolo and Gudbjartsson, Daniel F and Gudnason, Vilmundur and Hansen, Torben and Kääb, Stefan and Kanters, Jørgen K and Kooperberg, Charles and Lehtimäki, Terho and Lin, Henry J and Lubitz, Steven A and Mook-Kanamori, Dennis O and Conti, Francesco J and Newton-Cheh, Christopher H and Rosand, Jonathan and Rudan, Igor and Samani, Nilesh J and ...
Genome Biology, ISSN 1474-7596, 07/2018, Volume 19, Issue 1, pp. 87 - 17
Journal Article
The Oncologist, ISSN 1083-7159, 09/2011, Volume 16, Issue 9, pp. 1258 - 1269
摘要 目的.  在高活性抗逆转录病毒治疗(HAART)时代,肝细胞肝癌(HCC)已成为HIV(人类免疫缺陷病毒)阳性患者日益突出的致死因素。本研究旨在了解HIV阳性患者与HIV阴性患者的HCC肿瘤特征及不同的治疗方法,评估患者HCC确诊后生存期,并明确临床预后预测因素。 患者和方法.... 
Highly active antiretroviral therapy | Hepatocellular carcinoma | AIDS | HIV | Hepatitis C virus | MORTALITY | RISK-FACTORS | MANAGEMENT | CHRONIC HEPATITIS-C | HUMAN-IMMUNODEFICIENCY-VIRUS | LIVER-DISEASE | POTENT ANTIRETROVIRAL THERAPY | B-VIRUS | EMERGING ROLE | ONCOLOGY | VIRAL-HEPATITIS | Liver Neoplasms - virology | Prognosis | Humans | Middle Aged | Male | Treatment Outcome | Carcinoma, Hepatocellular - virology | Liver Neoplasms - therapy | HIV Infections - pathology | Carcinoma, Hepatocellular - pathology | HIV Infections - complications | Aged, 80 and over | Adult | Female | Liver Neoplasms - pathology | Aged | Carcinoma, Hepatocellular - therapy | Retrospective Studies | Hepatobiliary
Journal Article