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- 2012
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Mark
Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
(
- Contribution to journal › Article
- 2009
-
Mark
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours
(
- Contribution to journal › Article
-
Mark
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
(
- Contribution to journal › Article
- 2008
-
Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article