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Deafness, X-linked
POU3F4
Rare mitochondrial non-syndromic sensorineural deafness
,
Xq21 microdeletion syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cerebral cavernous malformation (gene panel)
KRIT1
,
CCM2
,
PDCD10
Cerebral cavernous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Familial cerebral cavernous malformation
Centre de Génétique Médicale UCL
CYP2C9*2,*3 genotyping - drug metabolism - Pharmacogenetics
CYP2C9
Vitamin K antagonists toxicity or dose selection
,
Oral antidiabetic drugs toxicity or dose selection
Centre de Génétique Médicale UCL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Menselijke Erfelijkheid - KUL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Médicale UCL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Antwerpen
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Humaine - Erasme ULB
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Brussel VUB
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Humaine - CHU Sart-Tilman
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (Full sequencing)
SMN1
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Humaine - CHU Sart-Tilman
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