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RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.691-691 -
- Journal Article
- A1
- open access
Experiences and challenges in perinatal palliative care : a qualitative study among parents and healthcare providers in regional and tertiary hospitals
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- Journal Article
- A1
- open access
Supporting infants with severe perinatal diagnoses, their families and healthcare providers : development of a perinatal palliative care program
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- Journal Article
- A1
- open access
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease
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Speckle tracking echocardiography in twin pregnancies and the role of global longitudinal strain and peak systolic strain : a systematic review and meta-analysis
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Diagnostic efficiency of clinical exome sequencing in fetuses with congenital anomalies
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Non-invasive cell-free DNA methylation profiling of pregnant women for the diagnosis and early risk determination of preeclampsia
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- 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
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