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Refinado por: assunto: Mutation remover assunto: Patients remover
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1
Mitogen‐activated protein kinase activity drives cell trajectories in colorectal cancer
Mitogen‐activated protein kinase activity drives cell trajectories in colorectal cancer
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Mitogen‐activated protein kinase activity drives cell trajectories in colorectal cancer

Uhlitz, Florian ; Bischoff, Philip ; Peidli, Stefan ; Sieber, Anja ; Trinks, Alexandra ; Lüthen, Mareen ; Obermayer, Benedikt ; Blanc, Eric ; Ruchiy, Yana ; Sell, Thomas ; Mamlouk, Soulafa ; Arsie, Roberto ; Wei, Tzu‐Ting ; Klotz‐Noack, Kathleen ; Schwarz, Roland F ; Sawitzki, Birgit ; Kamphues, Carsten ; Beule, Dieter ; Landthaler, Markus ; Sers, Christine ; Horst, David ; Blüthgen, Nils ; Morkel, Markus

EMBO molecular medicine, 2021-10, Vol.13 (10), p.e14123-n/a [Periódico revisado por pares]

Frankfurt: John Wiley & Sons, Inc

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2
Nivolumab in chemotherapy-resistant cervical cancer: report of a vulvitis as a novel immune-related adverse event and molecular analysis of a persistent complete response
Nivolumab in chemotherapy-resistant cervical cancer: report of a vulvitis as a novel immune-related adverse event and molecular analysis of a persistent complete response
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Nivolumab in chemotherapy-resistant cervical cancer: report of a vulvitis as a novel immune-related adverse event and molecular analysis of a persistent complete response

Baettig, Florence ; Vlajnic, Tatjana ; Vetter, Marcus ; Glatz, Katharina ; Hench, Jürgen ; Frank, Stephan ; Bihl, Michel ; Lopez, Roberto ; Dobbie, Michael ; Heinzelmann-Schwarz, Viola ; Montavon, Céline

Journal for immunotherapy of cancer, 2019-10, Vol.7 (1), p.281-281, Article 281 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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3
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Germain, Dominique P ; Hughes, Derralynn A ; Nicholls, Kathleen ; Bichet, Daniel G ; Giugliani, Roberto ; Wilcox, William R ; Feliciani, Claudio ; Shankar, Suma P ; Ezgu, Fatih ; Amartino, Hernan ; Bratkovic, Drago ; Feldt-Rasmussen, Ulla ; Nedd, Khan ; Sharaf El Din, Usama ; Lourenco, Charles M ; Banikazemi, Maryam ; Charrow, Joel ; Dasouki, Majed ; Finegold, David ; Giraldo, Pilar ; Goker-Alpan, Ozlem ; Longo, Nicola ; Scott, C. Ronald ; Torra, Roser ; Tuffaha, Ahmad ; Jovanovic, Ana ; Waldek, Stephen ; Packman, Seymour ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Benjamin, Elfrida R ; Johnson, Franklin ; Lockhart, David J ; Skuban, Nina ; Castelli, Jeff ; Barth, Jay ; Barlow, Carrolee ; Schiffmann, Raphael

The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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4
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy
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L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B -related pediatric encephalopathy

Soto, David ; Olivella, Mireia ; Grau, Cristina ; Armstrong, Judith ; Alcon, Clara ; Gasull, Xavier ; Santos-Gómez, Ana ; Locubiche, Sílvia ; Gómez de Salazar, Macarena ; García-Díaz, Roberto ; Gratacòs-Batlle, Esther ; Ramos-Vicente, David ; Chu-Van, Emeline ; Colsch, Benoit ; Fernández-Dueñas, Víctor ; Ciruela, Francisco ; Bayés, Àlex ; Sindreu, Carlos ; López-Sala, Anna ; García-Cazorla, Àngels ; Altafaj, Xavier

Science signaling, 2019-06, Vol.12 (586) [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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5
The evolution of lung cancer and impact of subclonal selection in TRACERx
The evolution of lung cancer and impact of subclonal selection in TRACERx
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The evolution of lung cancer and impact of subclonal selection in TRACERx

Frankell, Alexander M ; Dietzen, Michelle ; Al Bakir, Maise ; Lim, Emilia L ; Karasaki, Takahiro ; Ward, Sophia ; Veeriah, Selvaraju ; Colliver, Emma ; Huebner, Ariana ; Bunkum, Abigail ; Hill, Mark S ; Grigoriadis, Kristiana ; Moore, David A ; Black, James R M ; Liu, Wing Kin ; Thol, Kerstin ; Pich, Oriol ; Watkins, Thomas B K ; Naceur-Lombardelli, Cristina ; Cook, Daniel E ; Salgado, Roberto ; Wilson, Gareth A ; Bailey, Chris ; Angelova, Mihaela ; Bentham, Robert ; Martínez-Ruiz, Carlos ; Abbosh, Christopher ; Nicholson, Andrew G ; Le Quesne, John ; Biswas, Dhruva ; Rosenthal, Rachel ; Puttick, Clare ; Hessey, Sonya ; Lee, Claudia ; Prymas, Paulina ; Toncheva, Antonia ; Smith, Jon ; Xing, Wei ; Nicod, Jerome ; Price, Gillian ; Kerr, Keith M ; Naidu, Babu ; Middleton, Gary ; Blyth, Kevin G ; Fennell, Dean A ; Forster, Martin D ; Lee, Siow Ming ; Falzon, Mary ; Hewish, Madeleine ; Shackcloth, Michael J ; Lim, Eric ; Benafif, Sarah ; Russell, Peter ; Boleti, Ekaterini ; Krebs, Matthew G ; Lester, Jason F ; Papadatos-Pastos, Dionysis ; Ahmad, Tanya ; Thakrar, Ricky M ; Lawrence, David ; Navani, Neal ; Janes, Sam M ; Dive, Caroline ; Blackhall, Fiona H ; Summers, Yvonne ; Cave, Judith ; Marafioti, Teresa ; Herrero, Javier ; Quezada, Sergio A ; Peggs, Karl S ; Schwarz, Roland F ; Van Loo, Peter ; Miedema, Daniël M ; Birkbak, Nicolai J ; Hiley, Crispin T ; Hackshaw, Allan ; Zaccaria, Simone ; Jamal-Hanjani, Mariam ; McGranahan, Nicholas ; Swanton, Charles

Nature (London), 2023-04, Vol.616 (7957), p.525-533 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Comparison between Sickle Cell Disease Patients and Healthy Donors: Untargeted Lipidomic Study of Erythrocytes
Comparison between Sickle Cell Disease Patients and Healthy Donors: Untargeted Lipidomic Study of Erythrocytes
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Comparison between Sickle Cell Disease Patients and Healthy Donors: Untargeted Lipidomic Study of Erythrocytes

Alabed, Husam B R ; Gorello, Paolo ; Pellegrino, Roberto Maria ; Lancioni, Hovirag ; La Starza, Roberta ; Taddei, Anna Aurora ; Urbanelli, Lorena ; Buratta, Sandra ; Fernandez, Anair Graciela Lema ; Matteucci, Caterina ; Caniglia, Maurizio ; Arcioni, Francesco ; Mecucci, Cristina ; Emiliani, Carla

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2529 [Periódico revisado por pares]

Switzerland: MDPI AG

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7
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
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Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Beck, Michael ; Ramaswami, Uma ; Hernberg-Ståhl, Elizabeth ; Hughes, Derralynn A ; Kampmann, Christoph ; Mehta, Atul B ; Nicholls, Kathleen ; Niu, Dau-Ming ; Pintos-Morell, Guillem ; Reisin, Ricardo ; West, Michael L ; Schenk, Jörn ; Anagnostopoulou, Christina ; Botha, Jaco ; Giugliani, Roberto

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-238, Article 238 [Periódico revisado por pares]

London: BioMed Central Ltd

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8
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression
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A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression

Paganoni, Alyssa J J ; Amoruso, Federica ; Porta Pelayo, Javier ; Calleja-Pérez, Beatriz ; Vezzoli, Valeria ; Duminuco, Paolo ; Caramello, Alessia ; Oleari, Roberto ; Fernández-Jaén, Alberto ; Cariboni, Anna

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5632 [Periódico revisado por pares]

Switzerland: MDPI AG

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9
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders
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NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders

Esposito, Maria Valeria ; Comegna, Marika ; Cernera, Gustavo ; Gelzo, Monica ; Paparo, Lorella ; Berni Canani, Roberto ; Castaldo, Giuseppe

Diagnostics (Basel), 2021-02, Vol.11 (2), p.262 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review
Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review
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Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review

Caputo, Fabio ; Lungaro, Lisa ; Galdi, Adriana ; Zoli, Eleonora ; Giancola, Fiorella ; Caio, Giacomo ; De Giorgio, Roberto ; Zoli, Giorgio

International journal of environmental research and public health, 2021-03, Vol.18 (6), p.3320 [Periódico revisado por pares]

Switzerland: MDPI AG

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