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Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia
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Diagnostic efficiency of clinical exome sequencing in fetuses with congenital anomalies
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1319-1319 -
Non-invasive cell-free DNA methylation profiling of pregnant women for the diagnosis and early risk determination of preeclampsia
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.869-870 -
Mapping the prevalence and origin of (mosaic) chromosomal abnormalities in human blastocysts : findings and potential value for PGT
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.805-805 -
- Journal Article
- A1
- open access
Advancing diagnosis and early risk assessment of preeclampsia through noninvasive cell-free DNA methylation profiling
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- Journal Article
- A1
- open access
Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction : uncovering incomplete concordance
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- Journal Article
- A1
- open access
Population screening for 15q11-q13 duplications : corroboration of the difference in impact between maternally and paternally inherited alleles
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- Journal Article
- A1
- open access
Pronuclear transfer rescues poor embryo development of in vitro-grown secondary mouse follicles
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- Journal Article
- A1
- open access
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
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Valuable insights after one year whole exome sequencing in a fetal/prenatal setting
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.356-356