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1
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Johnson, Katherine ; Bertoli, Marta ; Phillips, Lauren ; Töpf, Ana ; Van den Bergh, Peter ; Vissing, John ; Witting, Nanna ; Nafissi, Shahriar ; Jamal-Omidi, Shirin ; Łusakowska, Anna ; Kostera-Pruszczyk, Anna ; Potulska-Chromik, Anna ; Deconinck, Nicolas ; Wallgren-Pettersson, Carina ; Strang-Karlsson, Sonja ; Colomer, Jaume ; Claeys, Kristl G ; De Ridder, Willem ; Baets, Jonathan ; von der Hagen, Maja ; Fernández-Torrón, Roberto ; Zulaica Ijurco, Miren ; Espinal Valencia, Juan Bautista ; Hahn, Andreas ; Durmus, Hacer ; Willis, Tracey ; Xu, Liwen ; Valkanas, Elise ; Mullen, Thomas E ; Lek, Monkol ; MacArthur, Daniel G ; Straub, Volker

Skeletal muscle, 2018-07, Vol.8 (1), p.23-23, Article 23 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
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Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

Schiffmann, Raphael ; Bichet, Daniel G ; Jovanovic, Ana ; Hughes, Derralynn A ; Giugliani, Roberto ; Feldt-Rasmussen, Ulla ; Shankar, Suma P ; Barisoni, Laura ; Colvin, Robert B ; Jennette, J Charles ; Holdbrook, Fred ; Mulberg, Andrew ; Castelli, Jeffrey P ; Skuban, Nina ; Barth, Jay A ; Nicholls, Kathleen

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.68-68, Article 68 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Mesenchymal Stromal Cells from Female Donors Enhance Breast Cancer Cell Proliferation in vitro
Mesenchymal Stromal Cells from Female Donors Enhance Breast Cancer Cell Proliferation in vitro
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Mesenchymal Stromal Cells from Female Donors Enhance Breast Cancer Cell Proliferation in vitro

Pasanen, Ilkka ; Pietilä, Mika ; Lehtonen, Siri ; Lehtilahti, Elisa ; Hakkarainen, Tanja ; Blanco Sequeiros, Roberto ; Lehenkari, Petri ; Kuvaja, Paula

Oncology, 2015, Vol.88 (4), p.214-225 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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4
Antiglycan antibodies as serological markers in the differential diagnosis of inflammatory bowel disease
Antiglycan antibodies as serological markers in the differential diagnosis of inflammatory bowel disease
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Antiglycan antibodies as serological markers in the differential diagnosis of inflammatory bowel disease

Simondi, Daniele ; Mengozzi, Giulio ; Betteto, Silvia ; Bonardi, Renato ; Ghignone, Roberta Patrizia ; Fagoonee, Sharmila ; Pellicano, Rinaldo ; Sguazzini, Carlo ; Pagni, Roberto ; Rizzetto, Mario ; Astegiano, Marco

Inflammatory bowel diseases, 2008-05, Vol.14 (5), p.645-651 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Repositioning of the global epicentre of non-optimal cholesterol
Repositioning of the global epicentre of non-optimal cholesterol
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Repositioning of the global epicentre of non-optimal cholesterol

Taddei, Cristina ; Zhou, Bin ; Bixby, Honor ; Carrillo-Larco, Rodrigo M ; Danaei, Goodarz ; Jackson, Rod T ; Farzadfar, Farshad

Nature (London), 2020, Vol.582 (7810), p.73-77 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Exploring How Media Influence Preventive Behavior and Excessive Preventive Intention during the COVID-19 Pandemic in China
Exploring How Media Influence Preventive Behavior and Excessive Preventive Intention during the COVID-19 Pandemic in China
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Exploring How Media Influence Preventive Behavior and Excessive Preventive Intention during the COVID-19 Pandemic in China

Liu, Liqun ; Xie, Jingzhong ; Li, Ke ; Ji, Suhe

International journal of environmental research and public health, 2020-10, Vol.17 (21), p.7990 [Periódico revisado por pares]

Switzerland: MDPI AG

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7
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis
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A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis

Zhuo, Ling ; Huang, Lulin ; Yang, Zhenglin ; Li, Guisen ; Wang, Li

BMC medical genetics, 2019-06, Vol.20 (1), p.111-111, Article 111 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
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Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

Bosch, Annet M ; Burlina, Alberto ; Cunningham, Amy ; Bettiol, Esther ; Moreau-Stucker, Flavie ; Koledova, Ekaterina ; Benmedjahed, Khadra ; Regnault, Antoine

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.80-80, Article 80 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Co-circulation of Toscana virus and Punique virus in northern Tunisia: a microneutralisation-based seroprevalence study
Co-circulation of Toscana virus and Punique virus in northern Tunisia: a microneutralisation-based seroprevalence study
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Co-circulation of Toscana virus and Punique virus in northern Tunisia: a microneutralisation-based seroprevalence study

Sakhria, Sonia ; Bichaud, Laurence ; Mensi, Mohamed ; Salez, Nicolas ; Dachraoui, Khalil ; Thirion, Laurence ; Cherni, Saifedine ; Chelbi, Ifhem ; De Lamballerie, Xavier ; Zhioua, Elyes ; Charrel, Rémi N Turell, Michael J.

PLoS neglected tropical diseases, 2013, Vol.7 (9), p.e2429-e2429 [Periódico revisado por pares]

United States: Public Library of Science

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10
Spatial clustering and local risk of leprosy in São Paulo, Brazil
Spatial clustering and local risk of leprosy in São Paulo, Brazil
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Spatial clustering and local risk of leprosy in São Paulo, Brazil

Ramos, Antônio Carlos Vieira ; Yamamura, Mellina ; Arroyo, Luiz Henrique ; Popolin, Marcela Paschoal ; Chiaravalloti Neto, Francisco ; Palha, Pedro Fredemir ; Uchoa, Severina Alice da Costa ; Pieri, Flávia Meneguetti ; Pinto, Ione Carvalho ; Fiorati, Regina Célia ; de Queiroz, Ana Angélica Rêgo ; Belchior, Aylana de Souza ; Dos Santos, Danielle Talita ; Garcia, Maria Concebida da Cunha ; Crispim, Juliane de Almeida ; Alves, Luana Seles ; Berra, Thaís Zamboni ; Arcêncio, Ricardo Alexandre Johnson, Christian

PLoS neglected tropical diseases, 2017-02, Vol.11 (2), p.e0005381-e0005381 [Periódico revisado por pares]

United States: Public Library of Science

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