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- 2023
-
Mark
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
(
- Contribution to journal › Article
- 2016
-
Mark
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
(
- Contribution to journal › Article
- 2014
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
- 2012
-
Mark
Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
(
- Contribution to journal › Article
- 2009
-
Mark
Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus
(
- Contribution to journal › Article