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- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- 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
- 2008
-
Mark
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
(
- Contribution to journal › Article
- 2007
-
Mark
Cytogenetic findings in pediatric renal cell carcinoma
(
- Contribution to journal › Article
- 2003
-
Mark
Cytogenetic findings and clinical course in a consecutive series of Wilms tumors
(
- Contribution to journal › Article