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1
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel
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Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel

Orsmark‐Pietras, Christina ; Lyander, Anna ; Ladenvall, Claes ; Hallström, Björn ; Staffas, Anna ; Awier, Hero ; Krstic, Aleksandra ; Baliakas, Panagiotis ; Barbany, Gisela ; Håkansson, Cecilia Brunhoff ; Gellerbring, Anna ; Hagström, Anna ; Hellström‐Lindberg, Eva ; Juliusson, Gunnar ; Lazarevic, Vladimir ; Munters, Arielle ; Pandzic, Tatjana ; Wadelius, Mia ; Ås, Joel ; Fogelstrand, Linda ; Wirta, Valtteri ; Rosenquist, Richard ; Cavelier, Lucia ; Fioretos, Thoas

Genes chromosomes & cancer, 2024-07, Vol.63 (7), p.e23257-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma
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Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma

Linder, A ; Westbom-Fremer, S ; Mateoiu, C ; Olsson Widjaja, A ; Österlund, T ; Veerla, S ; Ståhlberg, A ; Ulfenborg, B ; Hedenfalk, I ; Sundfeldt, K

Human reproduction (Oxford), 2024-05, Vol.39 (5), p.1141-1154 [Periódico revisado por pares]

England: Oxford University Press

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3
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration
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Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration

Belfiori, Lautaro Francisco ; Dueñas Rey, Alfredo ; Ralbovszki, Dorottya Mária ; Jimenez-Ferrer, Itzia ; Fredlund, Filip ; Balikai, Sagar Shivayogi ; Ahrén, Dag ; Brolin, Kajsa Atterling ; Swanberg, Maria

Frontiers in aging neuroscience, 2024-02, Vol.16, p.1337365-1337365 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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4
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
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Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway

Saba, Karim H ; Difilippo, Valeria ; Kovac, Michal ; Cornmark, Louise ; Magnusson, Linda ; Nilsson, Jenny ; van den Bos, Hilda ; Spierings, Diana Cj ; Bidgoli, Mahtab ; Jonson, Tord ; Sumathi, Vaiyapuri P ; Brosjö, Otte ; Staaf, Johan ; Foijer, Floris ; Styring, Emelie ; Nathrath, Michaela ; Baumhoer, Daniel ; Nord, Karolin H

The Journal of pathology, 2024-02, Vol.262 (2), p.147-160 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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5
A genomic mutational constraint map using variation in 76,156 human genomes
A genomic mutational constraint map using variation in 76,156 human genomes
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A genomic mutational constraint map using variation in 76,156 human genomes

Chen, Siwei ; Francioli, Laurent C ; Goodrich, Julia K ; Collins, Ryan L ; Kanai, Masahiro ; Wang, Qingbo ; Alföldi, Jessica ; Watts, Nicholas A ; Vittal, Christopher ; Gauthier, Laura D ; Poterba, Timothy ; Wilson, Michael W ; Tarasova, Yekaterina ; Phu, William ; Grant, Riley ; Yohannes, Mary T ; Koenig, Zan ; Farjoun, Yossi ; Banks, Eric ; Donnelly, Stacey ; Gabriel, Stacey ; Gupta, Namrata ; Ferriera, Steven ; Tolonen, Charlotte ; Novod, Sam ; Bergelson, Louis ; Roazen, David ; Ruano-Rubio, Valentin ; Covarrubias, Miguel ; Llanwarne, Christopher ; Petrillo, Nikelle ; Wade, Gordon ; Jeandet, Thibault ; Munshi, Ruchi ; Tibbetts, Kathleen ; O'Donnell-Luria, Anne ; Solomonson, Matthew ; Seed, Cotton ; Martin, Alicia R ; Talkowski, Michael E ; Rehm, Heidi L ; Daly, Mark J ; Tiao, Grace ; Neale, Benjamin M ; MacArthur, Daniel G ; Karczewski, Konrad J

Nature (London), 2024-01, Vol.625 (7993), p.92-100 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous
Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous
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Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous

Difilippo, Valeria ; Saba, Karim H ; Styring, Emelie ; Magnusson, Linda ; Nilsson, Jenny ; Nathrath, Michaela ; Baumhoer, Daniel ; Nord, Karolin H

Laboratory investigation, 2024-01, Vol.104 (1), p.100283-100283, Article 100283 [Periódico revisado por pares]

United States

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7
Rare-variant collapsing analyses of arterial hypertension in the UK biobank
Rare-variant collapsing analyses of arterial hypertension in the UK biobank
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Rare-variant collapsing analyses of arterial hypertension in the UK biobank

Zöller, Bengt ; Manderstedt, Eric ; Lind-Halldén, Christina ; Halldén, Christer

Journal of human hypertension, 2023-11, Vol.37 (11), p.1040-1042 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer
Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer
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Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer

Li, Yanni ; Sundquist, Kristina ; Vats, Sakshi ; Hong, Mun-Gwan ; Wang, Xiao ; Chen, Yilun ; Hedelius, Anna ; Saal, Lao H ; Sundquist, Jan ; Memon, Ashfaque A

Journal of translational medicine, 2023-10, Vol.21 (1), p.1-696, Article 696 [Periódico revisado por pares]

London: BioMed Central Ltd

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9
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk
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Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk

Yu, Zhi ; Fidler, Trevor P ; Ruan, Yunfeng ; Vlasschaert, Caitlyn ; Nakao, Tetsushi ; Uddin, Md Mesbah ; Mack, Taralynn ; Niroula, Abhishek ; Heimlich, J Brett ; Zekavat, Seyedeh M ; Gibson, Christopher J ; Griffin, Gabriel K ; Wang, Yuxuan ; Peloso, Gina M ; Heard-Costa, Nancy ; Levy, Daniel ; Vasan, Ramachandran S ; Aguet, François ; Ardlie, Kristin G ; Taylor, Kent D ; Rich, Stephen S ; Rotter, Jerome I ; Libby, Peter ; Jaiswal, Siddhartha ; Ebert, Benjamin L ; Bick, Alexander G ; Tall, Alan R ; Natarajan, Pradeep

The Journal of clinical investigation, 2023-09, Vol.133 (18), p.1-15 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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10
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler-Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia

Genetics in medicine, 2023-06, Vol.25 (6), p.100314, Article 100314 [Periódico revisado por pares]

United States: Elsevier Inc

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