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- 2012
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Mark
Curating gene variant databases (LSDBs): toward a universal standard.
(
- Contribution to journal › Article
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Mark
Disease-associated patterns of disomic chromosomes in hyperhaploid neoplasms.
(
- Contribution to journal › Article
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Mark
Guidelines for establishing locus specific databases.
(
- Contribution to journal › Article
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Mark
A novel GTF2I/NCOA2 fusion gene emphasizes the role of NCOA2 in soft tissue angiofibroma development.
2012) In Genes, Chromosomes and Cancer(
- Contribution to journal › Letter
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Mark
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
(
- Contribution to journal › Article
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Mark
Large-scale replication and heterogeneity in Parkinson disease genetic loci
(
- Contribution to journal › Article
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Mark
ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
(
- Contribution to journal › Article
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Mark
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
(
- Contribution to journal › Article
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Mark
SHANK1 Deletions in Males with Autism Spectrum Disorder
(
- Contribution to journal › Article
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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