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Scientific Reports|May 14, 2017
Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal TestingL F Johansson, E N de Boer, H A de Weerd, et al.
International Journal of Cardiology|March 4, 2021
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patientsMohamed Z Alimohamed, Lennart F Johansson, Anna Posafalvi, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|March 11, 2024
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencingR Baardman, H H Lemmink, V K Yenamandra, et al.
Molecular Genetics and Metabolism|September 6, 2005
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countriesAgnieszka Lugowska, Olga Amaral, Johannes Berger, et al.
Aging Cell|December 2, 2024
Tissue-specific methylomic responses to a lifestyle intervention in older adults associate with metabolic and physiological health improvementsLucy Sinke, Marian Beekman, Yotam Raz, et al.
Communications Biology|February 4, 2026
Epigenome-wide association study of circulating interleukin-6 connects DNA methylation to immunometabolic and inflammatory healthLucy Sinke, Jenny van Dongen, Thomas Delerue, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnosticsNicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, et al.
American Journal of Human Genetics|November 2, 2010
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, et al.
Human Mutation|April 15, 2015
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and PrioritizationK Joeri van der Velde, Joël Kuiper, Bryony A Thompson, et al.
Journal of Psychopharmacology (Oxford, England)|February 1, 2022
Clinical effects of glabellar botulinum toxin injections on borderline personality disorder: A randomized controlled trialM Axel Wollmer, Insa Neumann, Stefanie Jung, et al.
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