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(1 - 3 of 3)
Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism
Heinen, C.; Losekoot, M.; Sun, Y.; Watson, P.; Fairall, L.; Joustra, S.; ... ; Trotsenburg, P. van 2016
Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism
Article / Letter to editor
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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Dauwerse, J.G.; Belzen, M. van; Haeringen, A. van; Santen, G. van; Lans, C. van de; Rahikkala, E.; ... ; Peters, D. 2016
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Article / Letter to editor
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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Vrijenhoek, T.; Kraaijeveld, K.; Elferink, M.; Ligt, J. de; Kranendonk, E.; Santen, G.; ... ; Cuppen, E. 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Article / Letter to editor
metadata only