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Clinical Genetics|January 11, 2019
MRX93 syndrome (BRWD3 gene): five new patients with novel mutationsJair Tenorio, Pablo Alarcón, Pedro Arias, et al.
Cureus|May 2, 2024
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeLaura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 31, 2019
Lung transplant referral for individuals with cystic fibrosis: Cystic Fibrosis Foundation consensus guidelinesKathleen J Ramos, Patrick J Smith, Edward F McKone, et al.
Annals of Tropical Medicine and Parasitology|February 24, 2007
Correlation of the serum concentrations of tumour necrosis factor and nitric oxide with disease severity in chronic Chagas disease (American trypanosomiasis)R Pérez-Fuentes, A López-Colombo, G Ordóñez-Toquero, et al.
Bioconjugate Chemistry|January 5, 2017
Unique Triphenylphosphonium Derivatives for Enhanced Mitochondrial Uptake and Photodynamic TherapyZhang Hu, Ying Sim, Oi Lian Kon, et al.
Plos One|February 23, 2012
PIPS: pathogenicity island prediction softwareSiomar C Soares, Vinícius A C Abreu, Rommel T J Ramos, et al.
Molecular Microbiology|March 30, 1999
Fps1p controls the accumulation and release of the compatible solute glycerol in yeast osmoregulationM J Tamás, K Luyten, F C Sutherland, et al.
Journal of Enzyme Inhibition and Medicinal Chemistry|February 7, 2019
Evaluation of a flavonoids library for inhibition of pancreatic α-amylase towards a structure-activity relationshipCarina Proença, Marisa Freitas, Daniela Ribeiro, et al.
Alimentary Pharmacology & Therapeutics|August 11, 2016
Proactive therapeutic drug monitoring of infliximab: a comparative study of a new point-of-care quantitative test with two established ELISA assaysJ Afonso, S Lopes, R Gonçalves, et al.
Scientific Reports|July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndromeMarta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
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