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Fabry disease
GLA
Fabry disease
Centrum Medische Genetica - UZ Gent
Fabry disease
GLA
Fabry disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Enzymatic dosage Fabry disease
Fabry disease
Centrum Medische Genetica - UZ Brussel VUB
Cadasil (exons of EGFL domains (2 - 24 ))
NOTCH3
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Centrum Medische Genetica - UZ Gent
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes) - VUB
Bilateral perisylvian polymicrogyria
,
Cobblestone lissencephaly without muscular or ocular involvement
,
Lissencephaly due to LIS1 mutation
,
Lissencephaly due to TUBA1A mutation
,
Lissencephaly syndrome, Norman-Roberts type
,
Lissencephaly type 1 due to doublecortin gene mutation
,
Microlissencephaly
,
Polymicrogyria due to TUBB2B mutation
,
Subcortical band heterotopia
,
X-linked lissencephaly with abnormal genitalia
Centrum Medische Genetica - UZ Brussel VUB
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