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Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
SMARCB1
,
SMARCA4
Rhabdoid tumor predisposition syndrome
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
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
ABCB1 genotyping (c.3435C>T, c.1199G>A ) - Transport protein - Pharmacogenetics
ABCB1
Resistance to colchicine
Centre de Génétique Médicale UCL
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