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Journal of Applied Crystallography|August 6, 2026
Improving polarized neutron reflectometry experiments on soft-matter samples: optimization of the solid substrate structureIvan P Yakimenko, Alessandra Luchini, Joshaniel F K Cooper, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRoberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, et al.
Blood|June 5, 2013
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGTPeter M Krawitz, Britta Höchsmann, Yoshiko Murakami, et al.
Medrxiv : the Preprint Server for Health Sciences|September 12, 2022
Metformin is Associated with Reduced COVID-19 Severity in Patients with PrediabetesLauren E Chan, Elena Casiraghi, Bryan Laraway, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
The Application of Clinical Genetics|July 1, 2015
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndromeYskert von Kodolitsch, Julie De Backer, Helke Schüler, et al.
Molecular Therapy. Nucleic Acids|December 17, 2017
AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan SyndromeRawa Arif, Marcin Zaradzki, Anca Remes, et al.
Sleep|July 28, 2025
The association between sleep parameters, cognitive functioning, and markers of brain morphology: The Maastricht StudyTessa L van Baal, Sebastian Köhler, Annemarie Koster, et al.
International Journal of Medical Informatics|April 21, 2024
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forestsLauren E Chan, Elena Casiraghi, Justin Reese, et al.
European Journal of Medical Genetics|March 12, 2014
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 geneAdeline Jacquinet, Alain Verloes, Bert Callewaert, et al.
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