prof. dr. Sandra Janssens
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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study
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- Journal Article
- A1
- open access
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1
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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Two novel probands with Myhre syndrome identified through WES
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- Journal Article
- A1
- open access
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV
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- Journal Article
- A1
- open access
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
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Expanding the clinical spectrum of biallelic ZNF335 variants
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Interpreting genetic variants in titin in patients with muscle disorders
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
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Public views on genetics and genetic testing : a survey of the general public in Belgium