المؤلفون: Vallverdú Prats, Marta

المساهمون: University/Department: Universitat de Girona. Departament de Ciències Mèdiques, University/Department: Universitat de Girona. Departament de Biologia

مرشدي الرسالة: Alcalde Masegu, Mireia, Brugada, Ramon, Campuzano Larrea, Oscar

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Cardiomiopatia arritmogènica, Cardiomiopatía arritmogénica, Arrhythmogenic cardiomyopathy, Desmosomes, Desmosomas, CRISPR/Cas9, Codons stop prematurs, Codons stop prematuros, Premature termination codons, HL1, Variants genètiques rares, Variantes genéticas raras, Genetic rare variants, Translation reinitiation, Gens desmosomals, Genes desmosomales, Desmosomal genes

Time: 616.1

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/688248

المؤلفون: Flannery, Kyle P., Safwat, Sylvia^{Aff1, Aff2}, Matsell, Eli, Battula, Namarata, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Koko, Mahmoud, Abubaker, Rayan, Abozar, Fatima, Elsayed, Liena E. O., Bhise, Vikram, Molday, Robert S., Salih, Mustafa A., Yahia, Ashraf^{Aff10, Aff11, Aff12}, Manzini, M. Chiara^{Aff1, Aff13, IDs10048024007739_cor16}

المصدر: Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. :1-9

المؤلفون: Sušak, Hana, 1985-

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Ossowski, Stephan

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Gens casual del càncer, Evolució del càncer, Prova d'associació, Tres complexos, Variants rares, Cancer driver genes, Cancer evolution, Association test, Complex trait, Rare variants

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/668447

المؤلفون: Sušak, Hana

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Ossowski, Stephan

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Gens causal del càncer, Evolució del càncer, Prova d'associació, Trets complexos, Variants rares, Cancer driver genes, Cancer evolution, Association test, Coomplex trait, Rare variants

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/664504

المؤلفون: Ferreira, Tomas, Polavarapu, Kiran, Olimpio, Catarina^{Aff1, Aff3}, Paramonov, Ida, Lochmüller, Hanns^{Aff2, Aff4, Aff5, Aff6, Aff7}, Horvath, Rita^{Aff1, IDs0041502412319y_cor6}

المصدر: Journal of Neurology. 271(6):3546-3553

المؤلفون: Wang, Yuxuan, Selvaraj, Margaret, Li, Xihao, Li, Zilin, Holdcraft, Jacob, Arnett, Donna, Bis, Joshua, Blangero, John, Boerwinkle, Eric, Bowden, Donald, Cade, Brian, Carlson, Jenna, Carson, April, Chen, Yii-Der, Curran, Joanne, de Vries, Paul, Dutcher, Susan, Ellinor, Patrick, Floyd, James, Fornage, Myriam, Freedman, Barry, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, Guo, Xiuqing, He, Jiang, Heard-Costa, Nancy, Hildalgo, Bertha, Hou, Lifang, Irvin, Marguerite, Joehanes, Roby, Kaplan, Robert, Kardia, Sharon, Kelly, Tanika, Kim, Ryan, Kooperberg, Charles, Kral, Brian, Levy, Daniel, Li, Changwei, Liu, Chunyu, Lloyd-Jone, Don, Loos, Ruth, Mahaney, Michael, Martin, Lisa, Mathias, Rasika, Minster, Ryan, Mitchell, Braxton, Montasser, May, Morrison, Alanna, Murabito, Joanne, Naseri, Take, OConnell, Jeffrey, Palmer, Nicholette, Preuss, Michael, Psaty, Bruce, Raffield, Laura, Rao, Dabeeru, Redline, Susan, Reiner, Alexander, Rich, Stephen, Ruepena, Muagututia, Sheu, Wayne, Smith, Jennifer, Smith, Albert, Tiwari, Hemant, Tsai, Michael, Viaud-Martinez, Karine, Wang, Zhe, Yanek, Lisa, Zhao, Wei, Lin, Xihong, Natarajan, Pradeep, Peloso, Gina, Rotter, Jerome

المصدر: American Journal of Human Genetics. 110(10)

مصطلحات موضوعية: association, blood lipid, cholesterol, lncRNA, rare variants, whole-genome sequencing, Humans, RNA, Long Noncoding, Genome-Wide Association Study, Precision Medicine, Whole Genome Sequencing, Lipids, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8b9822xc

المؤلفون: Li, Taibo, Ferraro, Nicole, Strober, Benjamin J, Aguet, Francois, Kasela, Silva, Arvanitis, Marios, Ni, Bohan, Wiel, Laurens, Hershberg, Elliot, Ardlie, Kristin, Arking, Dan E, Beer, Rebecca L, Brody, Jennifer, Blackwell, Thomas W, Clish, Clary, Gabriel, Stacey, Gerszten, Robert, Guo, Xiuqing, Gupta, Namrata, Johnson, W Craig, Lappalainen, Tuuli, Lin, Henry J, Liu, Yongmei, Nickerson, Deborah A, Papanicolaou, George, Pritchard, Jonathan K, Qasba, Pankaj, Shojaie, Ali, Smith, Josh, Sotoodehnia, Nona, Taylor, Kent D, Tracy, Russell P, Van Den Berg, David, Wheeler, Matthew T, Rich, Stephen S, Rotter, Jerome I, Battle, Alexis, Montgomery, Stephen B

المصدر: Cell Genomics. 3(10)

مصطلحات موضوعية: Biological Sciences, Health Sciences, Genetics, Human Genome, Brain Disorders, Schizophrenia, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, functional genomics, machine learning, methylome, multi-omics, proteome, rare variants, transcriptome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33j3p065

المؤلفون: Pearson, Nathaniel M.^{Aff1, IDs12916024035390_cor1}, Novembre, John

المصدر: BMC Medicine. 22(1)

المؤلفون: Alade, Azeez^{Aff1, Aff2, IDs41598024651519_cor1}, Mossey, Peter, Awotoye, Waheed, Busch, Tamara, Oladayo, Abimbola M., Aladenika, Emmanuel, Olujitan, Mojisola, Wentworth, Emma^{Aff12, Aff16}, Anand, Deepti, Naicker, Thirona, Gowans, Lord J. J., Eshete, Mekonen A., Adeyemo, Wasiu L., Zeng, Erliang, Van Otterloo, Eric^{Aff1, Aff3}, O’Rorke, Michael, Adeyemo, Adebowale, Murray, Jeffrey C., Cotney, Justin, Lachke, Salil A.^{Aff13, Aff14}, Romitti, Paul, Butali, Azeez^{Aff1, Aff15, IDs41598024651519_cor22}

المصدر: Scientific Reports. 14(1)

المؤلفون: Liu, Wenbo, Wu, Yi, Ma, Rulan, Zhu, Xinxi, Wang, Rui, He, Lin, Shu, Maoguo^{Aff1, IDs13023024031492_cor7}

المصدر: Orphanet Journal of Rare Diseases. 19(1)