SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
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SNPs Array Karyotyping in Non-Hodgkin LymphomaIdentifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes.High-density SNP arrays improve detection of HER2 amplification and polyploidy in breast tumorsDRUMS: Disk Repository with Update Management and Select option for high throughput sequencing dataA 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid TumorsGenetic technologies in cancer investigation - applications in aggresive lymphoid malignanciesCombined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.Genome-wide arrays in routine diagnostics of hematological malignancies.Microarrays and microneedle arrays for delivery of peptides, proteins, vaccines and other applications.Clinical significance of de novo and inherited copy-number variation.What Is the Clinical Utility of Repeat SNP Array Testing in the Follow-up of Myeloid Neoplasms?: A Retrospective Analysis of 44 Patients With Serial SNP Arrays.Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation FamilyCopy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience.Genomic disorders 20 years on-mechanisms for clinical manifestations.Pitfalls in short-tandem repeat analysis as quality control for sample mix-up of pediatric acute lymphoblastic leukemia patients.Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.Early presentation of cystic kidneys in a family with a homozygousINVSmutation
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P2860
SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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SNP array analysis in constitu ...... enotyping and quality control.
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SNP array analysis in constitu ...... enotyping and quality control.
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label
SNP array analysis in constitu ...... enotyping and quality control.
@en
SNP array analysis in constitu ...... enotyping and quality control.
@nl
prefLabel
SNP array analysis in constitu ...... enotyping and quality control.
@en
SNP array analysis in constitu ...... enotyping and quality control.
@nl
P2093
P2860
P356
P1476
SNP array analysis in constitu ...... enotyping and quality control.
@en
P2093
A Geurts van Kessel
B H W Faas
D F Smeets
J Y Hehir-Kwa
N de Leeuw
P2860
P304
P356
10.1159/000331273
P577
2011-09-16T00:00:00Z