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Reconciling the biomedical data commons and the GDPR : three lessons from the EUCAN ELSI collaboratory
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Mapping the 3D genome of the human retina and its role in retinal disease
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.57-57 -
Structural variants disrupt a critical regulatory region downstream of FOXG1
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.28-28 -
- Miscellaneous
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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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Novel pathogenic ALG8 variants and evidence for somatic loss of heterozygosity in 542 autosomal dominant polycystic liver disease patients
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- Journal Article
- A1
- open access
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
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Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.472-472