Search Results - "Garcia, Mercè"
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Recent Advances in Numerical Simulation of Ejector Pumps for Vacuum Generation—A Review
Published in Energies (Basel) (01-09-2024)“…This review paper provides an overview of recent advances in computational fluid dynamics (CFD) simulations of ejector pumps for vacuum generation. It examines…”
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2
Actionable secondary findings from whole-genome sequencing of 954 East Asians
Published in Human genetics (01-01-2018)“…Recently, the American College of Medical Genetics (ACMG) recommended the return of actionable secondary findings detected from clinical sequencing. The…”
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Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Published in Developmental biology (01-10-2013)“…Finding genes for complex diseases has been the goal of many genetic studies. Most of these studies have been successful by searching for genes and mutations…”
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4
Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese
Published in Schizophrenia bulletin (01-07-2014)“…Schizophrenia is a highly heritable, severe psychiatric disorder affecting approximately 1% of the world population. A substantial portion of heritability is…”
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5
Hirschsprung's disease
Published in Seminars in pediatric surgery (01-08-2010)“…Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. Affected infants usually…”
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SARS-CoV-2 Contacts’ Symptom Development and Secondary Attack Rate: A Retrospective Analysis of a Contact-Tracing Cohort in Catalonia
Published in COVID (01-04-2023)“…Contact tracing outcome indicators, such as symptom development (SD) and secondary attack rate (SAR) among close contacts (CCs), are key to understanding…”
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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Published in Proceedings of the National Academy of Sciences - PNAS (24-02-2009)“…Hirschsprung's disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the…”
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Report of sexually transmitted infections prevalence in asymptomatic pregnant women under 25 years old in Lleida, Spain
Published in Revista española de quimioterapia (01-02-2022)Get full text
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9
Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype
Published in World journal of gastroenterology : WJG (21-02-2015)“…AIM:To investigate the role of IKBKAP(inhibitor of kappa light polypeptide gene enhancer in B-cells,kinase complexassociated protein)in the development of…”
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Estimation of the incidence of invasive meningococcal disease using a capture–recapture model based on two independent surveillance systems in Catalonia, Spain
Published in BMJ open (21-06-2022)“…ObjectivesInvasive meningococcal disease (IMD) is an urgent notifiable disease and its early notification is essential to prevent cases. The objective of the…”
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Gene‐Based Meta‐Analysis of Genome‐Wide Association Study Data Identifies Independent Single‐Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-11-2015)“…Objective Previous genome‐wide association studies (GWAS), which were mainly based on single‐variant analysis, have identified many systemic lupus…”
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Multicultural classroom discourse dataset on teachers’ and students’ dialogic empathy
Published in Data in brief (01-12-2021)“…This dataset belongs to a large-scale educational intervention project introducing cultural literacy learning in schools. The dataset includes transcribed…”
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13
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors
Published in JCI insight (25-01-2022)“…Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet the underlying genetic mechanisms remain poorly understood. Here, we performed…”
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Implications of Endocrine Gland–Derived Vascular Endothelial Growth Factor/Prokineticin-1 Signaling in Human Neuroblastoma Progression
Published in Clinical cancer research (01-02-2007)“…Purpose: Neuroblastoma is a common pediatric tumor that is derived from improperly differentiated neural crest cells (NCC). We recently revealed that endocrine…”
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Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease
Published in Human molecular genetics (15-04-2010)“…Receptor tyrosine kinase (RET) single nucleotide polymorphisms (SNPs) are associated with the Hirschsprung's disease (HSCR). We investigated whether the amount…”
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Cancer gene mutations in congenital pulmonary airway malformation patients
Published in ERJ open research (01-02-2019)“…Newborns affected with congenital pulmonary airway malformations (CPAMs) may present with severe respiratory distress or remain asymptomatic. While surgical…”
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Mutations in the NRG1 gene are associated with Hirschsprung disease
Published in Human genetics (2012)“…Hirschsprung disease (HSCR, congenital colon aganglionosis) is a relatively common complex genetic condition caused by abnormal development of the enteric…”
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What Is Meant by Argumentative Competence? An Integrative Review of Methods of Analysis and Assessment in Education
Published in Review of educational research (01-12-2013)“…The need to enhance argument skills through education has become increasingly evident during the past 20 years. This need has resulted in an ongoing discussion…”
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Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development
Published in Gastroenterology (New York, N.Y. 1943) (01-12-2018)“…Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic—that is, caused by multiple genetic factors. We performed whole-genome sequence…”
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The Effect of Argumentative Task Goal on the Quality of Argumentative Discourse
Published in Science education (Salem, Mass.) (01-07-2013)“…In argumentative discourse, there are two kinds of activity-dispute and deliberation-that depend on the argumentative task goal. In dispute the goal is to…”
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