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- 2017
-
Mark
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
(
- Contribution to journal › Article
- 2015
-
Mark
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
(
- Contribution to journal › Article
- 2013
-
Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
- 2010
-
Mark
Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
(
- Contribution to journal › Article