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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 -
Methylation signatures in clinically variable syndromic disorders: a familial <i>DNMT3A</i> variant in two adults with Tatton-Brown-Rahman syndrome
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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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Phenotyping nocturnal polyuria : circadian and age-related variations in diuresis rate, free water clearance and sodium clearance
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- Journal Article
- A1
- open access
The ETS transcription factor ETV5 is a target of activated ALK in neuroblastoma contributing to increased tumour aggressiveness
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Smart diapers for nursing home residents with dementia : a pilot study
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ALK positively regulates MYCN activity through repression of HBP1 expression