Richard J Sinke
4PUBLICATIONS
23CO-AUTHORS
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Publications (4)
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|Oct 28, 2025
Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia.Omid Jazayeri, Nassim Gorjizadeh, Mohammad Reza Salehiomran
|Jan 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks
|Mar 11, 2024
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.R Baardman, H H Lemmink, V K Yenamandra
|Aug 31, 2018
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.Edgar T Hoorntje, Anna Posafalvi, Petros Syrris
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Frequent Collaborators
1 joint publications
R Baardman
1 joint publications
V K Yenamandra
1 joint publications
G F H Diercks
1 joint publications
M van Geel
1 joint publications
H Scheffer
1 joint publications
B Sikkema-Raddatz
1 joint publications
M C Bolling
1 joint publications
P C van den Akker
1 joint publications
Edgar T Hoorntje
1 joint publications
Petros Syrris
