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Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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- Journal Article
- A1
- open access
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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- Journal Article
- A1
- open access
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction
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- Conference Paper
- C3
- open access
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119 -
- Conference Paper
- C3
- open access
Risk of malignant hyperthermia in patients carrying a variant in the ryanodine receptor 1 gene
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S296-S296 -
- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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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 -
Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI