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Refinado por: Base de dados/Biblioteca: Academic OneFile remover assunto: Adolescent remover assunto: Female remover
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1
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Montaño, Adriana M ; Lock-Hock, Ngu ; Steiner, Robert D ; Graham, Brett H ; Szlago, Marina ; Greenstein, Robert ; Pineda, Mercedes ; Gonzalez-Meneses, Antonio ; Çoker, Mahmut ; Bartholomew, Dennis ; Sands, Mark S ; Wang, Raymond ; Giugliani, Roberto ; Macaya, Alfons ; Pastores, Gregory ; Ketko, Anastasia K ; Ezgü, Fatih ; Tanaka, Akemi ; Arash, Laila ; Beck, Michael ; Falk, Rena E ; Bhattacharya, Kaustuv ; Franco, José ; White, Klane K ; Mitchell, Grant A ; Cimbalistiene, Loreta ; Holtz, Max ; Sly, William S

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
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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3
Influence of a family history of type 2 diabetes, demographic and clinical data on carotid intima-media thickness in patients with type 1 diabetes: a cross-sectional study
Influence of a family history of type 2 diabetes, demographic and clinical data on carotid intima-media thickness in patients with type 1 diabetes: a cross-sectional study
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Influence of a family history of type 2 diabetes, demographic and clinical data on carotid intima-media thickness in patients with type 1 diabetes: a cross-sectional study

de Andrade Junior, Carlos Roberto Moraes ; Silva, Eliete Leão Clemente ; da Matta, Maria de Fátima Bevilaqua ; Castier, Marcia Bueno ; Rosa, Maria Luiza Garcia ; Gomes, Marília de Brito

Cardiovascular Diabetology, 2014-05, Vol.13 (1), p.87-87, Article 87 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
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Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Scerri, Thomas S ; Quaglieri, Anna ; Cai, Carolyn ; Zernant, Jana ; Matsunami, Nori ; Baird, Lisa ; Scheppke, Lea ; Bonelli, Roberto ; Yannuzzi, Lawrence A ; Friedlander, Martin ; Egan, Catherine A ; Fruttiger, Marcus ; Leppert, Mark ; Allikmets, Rando ; Bahlo, Melanie

Nature genetics, 2017-04, Vol.49 (4), p.559-567 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant
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A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

Campo, Ilaria ; Zorzetto, Michele ; Mariani, Francesca ; Kadija, Zamir ; Morbini, Patrizia ; Dore, Roberto ; Kaltenborn, Eva ; Frixel, Sabrina ; Zarbock, Ralf ; Liebisch, Gerhard ; Hegermann, Jan ; Wrede, Christoph ; Griese, Matthias ; Luisetti, Maurizio

Respiratory research, 2014-04, Vol.15 (1), p.43-43, Article 43 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Sexually Transmitted Infections in Adolescents and Young Adults: A Cross Section of Public Health
Sexually Transmitted Infections in Adolescents and Young Adults: A Cross Section of Public Health
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Sexually Transmitted Infections in Adolescents and Young Adults: A Cross Section of Public Health

Cannovo, Nunzia ; Bianchini, Elena ; Gironacci, Luciana ; Garbati, Elisabetta ; Di Prospero, Filiberto ; Cingolani, Mariano ; Scendoni, Roberto ; Fedeli, Piergiorgio

International journal of environmental research and public health, 2024-04, Vol.21 (4), p.501 [Periódico revisado por pares]

Switzerland: MDPI AG

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7
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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8
Induction of Th17 Lymphocytes and Treg Cells by Monocyte-Derived Dendritic Cells in Patients with Rheumatoid Arthritis and Systemic Lupus Erythematosus
Induction of Th17 Lymphocytes and Treg Cells by Monocyte-Derived Dendritic Cells in Patients with Rheumatoid Arthritis and Systemic Lupus Erythematosus
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Induction of Th17 Lymphocytes and Treg Cells by Monocyte-Derived Dendritic Cells in Patients with Rheumatoid Arthritis and Systemic Lupus Erythematosus

Estrada-Capetillo, Lizbeth ; Hernández-Castro, Berenice ; Monsiváis-Urenda, Adriana ; Alvarez-Quiroga, Crisol ; Layseca-Espinosa, Esther ; Abud-Mendoza, Carlos ; Baranda, Lourdes ; Urzainqui, Ana ; Sánchez-Madrid, Francisco ; González-Amaro, Roberto Zhang, Jianying

Clinical & developmental immunology, 2013-01, Vol.2013, p.584303-9 [Periódico revisado por pares]

Egypt: Hindawi Publishing Corporation

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9
Pregnancy as a risk factor for severe influenza infection: an individual participant data meta-analysis
Pregnancy as a risk factor for severe influenza infection: an individual participant data meta-analysis
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Pregnancy as a risk factor for severe influenza infection: an individual participant data meta-analysis

Mertz, Dominik ; Lo, Calvin Ka-Fung ; Lytvyn, Lyubov ; Ortiz, Justin R ; Loeb, Mark

BMC infectious diseases, 2019-08, Vol.19 (1), p.683-683, Article 683 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
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Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Devigili, Grazia ; De Filippo, Michele ; Ciana, Giovanni ; Dardis, Andrea ; Lettieri, Christian ; Rinaldo, Sara ; Macor, Daniela ; Moro, Alessandro ; Eleopra, Roberto ; Bembi, Bruno

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.148-148, Article 148 [Periódico revisado por pares]

England: BioMed Central Ltd

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