about
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screeningImprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesCarrier screening by next-generation sequencing: health benefits and cost effectiveness.Next-generation carrier screeningMapping of the Angelman and Prader-Willi syndromes.Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.The critical region for Angelman syndrome lies between D15S122 and D15S113Use of the RB1 cDNA as a diagnostic probe in retinoblastoma familiesPossible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinomaEarly diagnosis in hereditary retinoblastoma by detection of molecular deletions at gene locusDetection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locusNo evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD)Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN geneFrequency and parental origin of hypermethylated RB1 alleles in retinoblastoma
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description
researcher ORCID ID = 0000-0001-7716-3973
@en
wetenschapper
@nl
name
Valerie Greger
@ast
Valerie Greger
@en
Valerie Greger
@es
Valerie Greger
@nl
type
label
Valerie Greger
@ast
Valerie Greger
@en
Valerie Greger
@es
Valerie Greger
@nl
prefLabel
Valerie Greger
@ast
Valerie Greger
@en
Valerie Greger
@es
Valerie Greger
@nl
P106
P31
P496
0000-0001-7716-3973