about
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthFamilial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionReproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.Functional disomy of the Xq28 chromosome region.Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.
P50
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P50
name
Nicole Morichon-Delvallez
@ast
Nicole Morichon-Delvallez
@en
Nicole Morichon-Delvallez
@es
Nicole Morichon-Delvallez
@nl
type
label
Nicole Morichon-Delvallez
@ast
Nicole Morichon-Delvallez
@en
Nicole Morichon-Delvallez
@es
Nicole Morichon-Delvallez
@nl
prefLabel
Nicole Morichon-Delvallez
@ast
Nicole Morichon-Delvallez
@en
Nicole Morichon-Delvallez
@es
Nicole Morichon-Delvallez
@nl