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Genes|May 5, 2021
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive <i>CFTR</i> Genotyping Needed?Chadia Mekki, Abdel Aissat, Véronique Mirlesse, et al.Human Mutation|March 18, 2014
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutationsAlexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, et al.Plos Genetics|October 16, 2010
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifierAlexandre Hinzpeter, Abdel Aissat, Elvira Sondo, et al.Journal of Clinical Medicine|November 13, 2021
Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide and High-Sensitivity Troponin T Levels in the Natural History of Transthyretin Amyloid Cardiomyopathy and Their Evolution after Tafamidis TreatmentSilvia Oghina, Constant Josse, Mélanie Bézard, et al.Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|June 28, 2023
Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort studyGrégoire Albenque, Mélanie Bézard, Mounira Kharoubi, et al.Journal of Clinical Medicine|November 13, 2021
Echocardiographic Patterns of Left Ventricular Diastolic Function in Cardiac Amyloidosis: An Updated EvaluationSilvia Oghina, Wulfran Bougouin, Mounira Kharoubi, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 7, 2004
Antibodies for CFTR studiesFilipa Mendes, Carlos M Farinha, Mónica Roxo-Rosa, et al.ERJ Open Research|March 3, 2018
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codonsIwona Pranke, Laure Bidou, Natacha Martin, et al.Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 30, 2023
A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosisViolaine Planté-Bordeneuve, Farida Gorram, Malin Olsson, et al.Human Mutation|December 23, 2017
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small moleculesNesrine Baatallah, Sara Bitam, Natacha Martin, et al.Pageof 8