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Article / Letter to editor
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2016
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Leiden University Medical Center (LUMC)
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Hennekam, R.
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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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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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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
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