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Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

• Authors : S. Fontao Mas; Carmen Ayuso; R. de Nicolas

Subjects: 0301 basic medicine; medicine.medical_specialty; Genetic counseling

• Source: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de MadridConsejería de Sanidad de la Comunidad de MadridMolecular Genetics and

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Perfil epidemiológico, clínico, fenotípico y genético de Pseudomonas aeruginosa en La Fundación Hospital de la Misericordia durante los años 2013-2014

• Authors : Arango Alvarado, Juan Jailer;

Subjects: Epidemiologia descriptiva; Bacterial; 57 Ciencias de la vida

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The History in DNA: A Proposal to Generate a Change of Vision of Science in School

• Authors : Cortez, Leonardo A.; Latorre, Nubia P.; Hernández, Rubinsten

Subjects: Secondary School Curriculum; Secondary School Science; Teaching MethodsColombia

• Source: Journal of Educational Psychology - Propositos y Representaciones. Jan-Jun 2016 4(1):305-326.22

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Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

• Authors : Soldati, Chiara; López-Fabuel, Irene; Wanderlingh, Luca G ...

Subjects: Genetics; Gene Therapy & Genetic Disease; Neuroscience

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Action of glycosidases on the saccharide moiety of the glucose-containing dolichyl diphosphate oligosaccharide

• Authors : Rodolfo A. Ugalde; Luis F. Leloir; Roberto J. Staneloni

Subjects: Los Trabajos de Leloir; Glycoside Hydrolases; Carbohydrates

• Source: CONICET Digital (CONICET)Consejo Nacional de Investigaciones Científicas y Técnicasinstacron:CONICET

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Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

• Authors : Ciro Acosta S; Díaz-Ordóñez L; Gutierrez-Medina JD

Subjects: eye; lcat; cholesterol/trafficking

• Source: The Application of Clinical Genetics, Vol Volume 17, Pp 23-32 (2024)

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Investigation of gene-environment interactions in relation to tic severity

• Authors : Frank Visscher; Kerstin J. Plessen; Tammy Hedderly ...

Subjects: Candidate gene; Tic severity; Autism Spectrum Disorder

• Source: Journal of neural transmission (Vienna, Austria : 1996), vol 128, iss 11Journal of Neural TransmissionJournal of Neural Transmission, 128, 1757-1765. SPRINGER WIENDigital.CSIC.

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The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas

• Authors : Rodriguez-Rojas LX; Candelo E; Pachajoa H

Subjects: mutyh mutations; familial cancer; heterozygote mutyh mutation

• Source: The Application of Clinical Genetics, Vol Volume 16, Pp 53-62 (2023)

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A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones

• Authors : Cristina Segovia‐Falquina; Alicia Vilas; Fátima Leal ...

Subjects: Glycosylation; Destabilizing; Conformational disease

• Source: Biblos-e Archivo. Repositorio Institucional de la UAMinstnameDigital.CSIC. Repositorio Institucional del CSIC

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Galectin-1 prevents pathological vascular remodeling in atherosclerosis and abdominal aortic aneurysm

• Authors : Roldán-Montero, Raquel; Pérez-Sáez, Juan M.; Cerro-Pardo, Isabel ...

Subjects: Proteomics; Galectin 1; vascular remodeling

• Source: Dipòsit Digital de Documents de la UABUniversitat Autònoma de BarcelonaScience Advancesr-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de

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