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Clinical Epigenetics|March 23, 2019
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnosticsI M Krzyzewska, M Alders, S M Maas, et al.Journal of Inherited Metabolic Disease|January 9, 2007
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levelsA C Vedder, G E Linthorst, M J van Breemen, et al.Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|May 28, 2010
Founder mutations in hypertrophic cardiomyopathy patients in the NetherlandsI Christiaans, E A Nannenberg, D Dooijes, et al.Journal of Medical Genetics|November 21, 2013
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canalA V Postma, M Alders, M Sylva, et al.Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|May 3, 2011
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathyA van den Wijngaard, P Volders, J P Van Tintelen, et al.Clinical Epigenetics|November 6, 2019
A genome-wide DNA methylation signature for SETD1B-related syndromeI M Krzyzewska, S M Maas, P Henneman, et al.The Journal of Clinical Endocrinology and Metabolism|October 11, 2013
The IGSF1 deficiency syndrome: characteristics of male and female patientsS D Joustra, N Schoenmakers, L Persani, et al.Pageof 2