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New mutation in a young woman diagnosed with Niemann–Pick disease type C
New mutation in a young woman diagnosed with Niemann–Pick disease type C
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New mutation in a young woman diagnosed with Niemann–Pick disease type C

Lario, Ana ; de Miguel, Carlos ; Ojeda, Emilio ; Gil, Santiago ; Coll, María J. ; Alfonso, Pilar

Medicina clínica (English ed.), 2016-06, Vol.146 (11), p.494-496 [Periódico revisado por pares]

Elsevier España, S.L.U

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2
Identification of an Immune-specific Class of Hepatocellular Carcinoma, Based on Molecular Features
Identification of an Immune-specific Class of Hepatocellular Carcinoma, Based on Molecular Features
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Identification of an Immune-specific Class of Hepatocellular Carcinoma, Based on Molecular Features

Sia, Daniela ; Jiao, Yang ; Martinez-Quetglas, Iris ; Kuchuk, Olga ; Villacorta-Martin, Carlos ; Castro de Moura, Manuel ; Putra, Juan ; Camprecios, Genis ; Bassaganyas, Laia ; Akers, Nicholas ; Losic, Bojan ; Waxman, Samuel ; Thung, Swan N ; Mazzaferro, Vincenzo ; Esteller, Manel ; Friedman, Scott L ; Schwartz, Myron ; Villanueva, Augusto ; Llovet, Josep M

Gastroenterology (New York, N.Y. 1943), 2017-09, Vol.153 (3), p.812-826 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Inference of Tumor Evolution during Chemotherapy by Computational Modeling and In Situ Analysis of Genetic and Phenotypic Cellular Diversity
Inference of Tumor Evolution during Chemotherapy by Computational Modeling and In Situ Analysis of Genetic and Phenotypic Cellular Diversity
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Inference of Tumor Evolution during Chemotherapy by Computational Modeling and In Situ Analysis of Genetic and Phenotypic Cellular Diversity

Almendro, Vanessa ; Cheng, Yu-Kang ; Randles, Amanda ; Itzkovitz, Shalev ; Marusyk, Andriy ; Ametller, Elisabet ; Gonzalez-Farre, Xavier ; Muñoz, Montse ; Russnes, Hege G. ; Helland, Åslaug ; Rye, Inga H. ; Borresen-Dale, Anne-Lise ; Maruyama, Reo ; van Oudenaarden, Alexander ; Dowsett, Mitchell ; Jones, Robin L. ; Reis-Filho, Jorge ; Gascon, Pere ; Gönen, Mithat ; Michor, Franziska ; Polyak, Kornelia

Cell reports (Cambridge), 2014-02, Vol.6 (3), p.514-527 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening
Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening
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Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening

Rodríguez Sánchez, Amparo ; Chueca Guindulain, María J. ; Alija Merillas, María ; Ares Segura, Susana ; Moreno Navarro, José Carlos ; Rodríguez Arnao, María Dolores

Anales de Pediatría, 2019-04, Vol.90 (4), p.250.e1-250.e8 [Periódico revisado por pares]

Netherlands: Elsevier España, S.L.U

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5
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Nakagawa, Kenji ; Gonzalez-Roca, Eva ; Souto, Alejandro ; Kawai, Toshinao ; Umebayashi, Hiroaki ; Campistol, Josep María ; Cañellas, Jeronima ; Takei, Syuji ; Kobayashi, Norimoto ; Callejas-Rubio, Jose Luis ; Ortego-Centeno, Norberto ; Ruiz-Ortiz, Estíbaliz ; Rius, Fina ; Anton, Jordi ; Iglesias, Estibaliz ; Jimenez-Treviño, Santiago ; Vargas, Carmen ; Fernandez-Martin, Julian ; Calvo, Inmaculada ; Hernández-Rodríguez, José ; Mendez, María ; Dordal, María Teresa ; Basagaña, Maria ; Bujan, Segundo ; Yashiro, Masato ; Kubota, Tetsuo ; Koike, Ryuji ; Akuta, Naoko ; Shimoyama, Kumiko ; Iwata, Naomi ; Saito, Megumu K ; Ohara, Osamu ; Kambe, Naotomo ; Yasumi, Takahiro ; Izawa, Kazushi ; Kawai, Tomoki ; Heike, Toshio ; Yagüe, Jordi ; Nishikomori, Ryuta ; Aróstegui, Juan I

Annals of the rheumatic diseases, 2015-03, Vol.74 (3), p.603-610 [Periódico revisado por pares]

England: BMJ Publishing Group

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6
Identification of Lynch Syndrome Among Patients With Colorectal Cancer
Identification of Lynch Syndrome Among Patients With Colorectal Cancer
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Identification of Lynch Syndrome Among Patients With Colorectal Cancer

Moreira, Leticia ; Balaguer, Francesc ; Lindor, Noralane ; de la Chapelle, Albert ; Hampel, Heather ; Aaltonen, Lauri A ; Hopper, John L ; Le Marchand, Loic ; Gallinger, Steven ; Newcomb, Polly A ; Haile, Robert ; Thibodeau, Stephen N ; Gunawardena, Shanaka ; Jenkins, Mark A ; Buchanan, Daniel D ; Potter, John D ; Baron, John A ; Ahnen, Dennis J ; Moreno, Victor ; Andreu, Montserrat ; Ponz de Leon, Maurizio ; Rustgi, Anil K ; Castells, Antoni

JAMA : the journal of the American Medical Association, 2012-10, Vol.308 (15), p.1555-1565 [Periódico revisado por pares]

Chicago, IL: American Medical Association

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7
Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entity
Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entity
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Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entity

Moeini, Agrin ; Sia, Daniela ; Zhang, Zhongyang ; Camprecios, Genis ; Stueck, Ashley ; Dong, Hui ; Montal, Robert ; Torrens, Laura ; Martinez-Quetglas, Iris ; Fiel, M. Isabel ; Hao, Ke ; Villanueva, Augusto ; Thung, Swan N ; Schwartz, Myron E ; Llovet, Josep M

Journal of hepatology, 2017-05, Vol.66 (5), p.952-961 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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8
IG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic Lymphomas
IG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic Lymphomas
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IG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic Lymphomas

VALERA, Alexandra ; BALAGUE, Olga ; COLOMO, Luis ; MARTINEZ, Antonio ; DELABIE, Jan ; TADDESSE-HEATH, Lekidelu ; JAFFE, Elaine S ; CAMPO, Elias

The American journal of surgical pathology, 2010-11, Vol.34 (11), p.1686-1694 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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9
Evaluation of Methods for the Concentration and Extraction of Viruses from Sewage in the Context of Metagenomic Sequencing
Evaluation of Methods for the Concentration and Extraction of Viruses from Sewage in the Context of Metagenomic Sequencing
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Evaluation of Methods for the Concentration and Extraction of Viruses from Sewage in the Context of Metagenomic Sequencing

Hjelmsø, Mathis Hjort ; Hellmér, Maria ; Fernandez-Cassi, Xavier ; Timoneda, Natàlia ; Lukjancenko, Oksana ; Seidel, Michael ; Elsässer, Dennis ; Aarestrup, Frank M ; Löfström, Charlotta ; Bofill-Mas, Sílvia ; Abril, Josep F ; Girones, Rosina ; Schultz, Anna Charlotte Tang, Patrick

PloS one, 2017-01, Vol.12 (1), p.e0170199-e0170199 [Periódico revisado por pares]

United States: Public Library of Science

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10
Common genetic variation and the control of HIV-1 in humans
Common genetic variation and the control of HIV-1 in humans
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Common genetic variation and the control of HIV-1 in humans

Fellay, Jacques ; Ge, Dongliang ; Shianna, Kevin V ; Colombo, Sara ; Ledergerber, Bruno ; Cirulli, Elizabeth T ; Urban, Thomas J ; Zhang, Kunlin ; Gumbs, Curtis E ; Smith, Jason P ; Castagna, Antonella ; Cozzi-Lepri, Alessandro ; De Luca, Andrea ; Easterbrook, Philippa ; Günthard, Huldrych F ; Mallal, Simon ; Mussini, Cristina ; Dalmau, Judith ; Martinez-Picado, Javier ; Miro, José M ; Obel, Niels ; Wolinsky, Steven M ; Martinson, Jeremy J ; Detels, Roger ; Margolick, Joseph B ; Jacobson, Lisa P ; Descombes, Patrick ; Antonarakis, Stylianos E ; Beckmann, Jacques S ; O'Brien, Stephen J ; Letvin, Norman L ; McMichael, Andrew J ; Haynes, Barton F ; Carrington, Mary ; Feng, Sheng ; Telenti, Amalio ; Goldstein, David B McCarthy, Mark I.

PLoS genetics, 2009-12, Vol.5 (12), p.e1000791-e1000791 [Periódico revisado por pares]

United States: Public Library of Science

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