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- Journal Article
- A1
- open access
High-throughput PCR assay design for targeted resequencing using primerXL
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- Journal Article
- A1
- open access
A unified censored normal regression model for qPCR differential gene expression analysis
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Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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Selection of reliable reference genes for RT-qPCR analysis
(2014) Qualntitative real-time PCR : methods and protocols. In Methods in Molecular Biology 1160. p.19-26 -
- Journal Article
- A1
- open access
Single-nucleotide polymorphisms and other mismatches reduce performance of quantitative PCR assays
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The digital MIQE guidelines : minimum information for publication of quantitative digital PCR experiments
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Evaluation of qPCR curve analysis methods for reliable biomarker discovery: bias, resolution, precision, and implications
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- Journal Article
- A1
- open access
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
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Primer sequence disclosure : a clarification of the MIQE guidelines
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- Journal Article
- A1
- open access
Measurable impact of RNA quality on gene expression results from quantitative PCR
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- Journal Article
- A1
- open access
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics
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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
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Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
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Meeting report from the second 'Minimum Information for Biological and Biomedical Investigations' (MIBBI) workshop
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Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde
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Accurate and objective copy number profiling using real-time quantitative PCR
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How to do successful gene expression analysis using real-time PCR
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- Journal Article
- A1
- open access
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
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The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
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- Journal Article
- A1
- open access
Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
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ZnT3 mRNA levels are reduced in Alzheimer's disease post-mortem brain
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The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
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- Journal Article
- A1
- open access
RDML : structured language and reporting guidelines for real-time quantitative PCR data
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Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study
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Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
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- Journal Article
- A1
- open access
External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data
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The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans
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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
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The heterozygous Lemd3 knock-out mouse: a murine model for osteopoikilosis in humans?
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Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene
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IHH and acrocapitofemoral dysplasia and brachydactyly A1
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LEDMD3 and osteopoikilosis, the Buschke-Ollendorf syndrome and melorheostosis
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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
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- PhD Thesis
- open access
Identification and analysis of genes involved in skeletal dysplasias affecting growth and bone homeostasis
(2007) -
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
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Buschke-Ollendorff syndrome with LEMD3 mutation but no loss of heterozygosity in localised asymmetric skin plaque
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Buschke-Ollendorff syndrome: a manifestation of LEMD3 mutation
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- Journal Article
- A1
- open access
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
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Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips