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Experimental Eye Research|October 9, 2012
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian familySeema Saini, Peter N Robinson, Jai Rup Singh, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 23, 2025
Public HealthNiels Janssen, Dominique Paauw, Lieke Bakker, et al.
Future Cardiology|October 7, 2009
Diagnosis and management of Marfan syndromeYskert von Kodolitsch, Meike Rybczynski, Christian Detter, et al.
Obesity Science & Practice|June 8, 2026
Obesity- and Glucose-Dependent Differential Autophagy Marker Expression in Adipose Tissues and AdipocytesEdita Islami, Andreas Schmid, Daniel Steger, et al.
Current Protocols in Human Genetics|September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential DiagnosticsSebastian Köhler, N Christine Øien, Orion J Buske, et al.
American Journal of Human Genetics|August 30, 2016
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian DiseaseDamian Smedley, Max Schubach, Julius O B Jacobsen, et al.
Human Molecular Genetics|July 16, 2004
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesisPeter N Robinson, Ulrike Böhme, Rodrigo Lopez, et al.
Journal of Alzheimer'S Disease : JAD|December 4, 2018
Gender and Educational Differences in the Association between Lifestyle and Cognitive Decline over 10 Years: The Doetinchem Cohort StudyKay Deckers, Astrid Nooyens, Martin van Boxtel, et al.
Eclinicalmedicine|June 24, 2026
Population attributable fractions of modifiable dementia risk factors in the Netherlands: a cross-sectional, time series analysisTessa L van Baal, Niels Janssen, Lukas A Duffner, et al.
Bioinformatics (Oxford, England)|November 14, 2018
An ontology-based method for assessing batch effect adjustment approaches in heterogeneous datasetsFlorian Schmidt, Markus List, Engin Cukuroglu, et al.
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