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Myotonic dystrophy type 2 - CCTG repeat expansion
CNBP
Proximal myotonic myopathy
Centrum Medische Genetica - UZ Antwerpen
Lissencephaly 3
TUBA1A
Lissencephaly due to TUBA1A mutation
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (Tubulin alpha 1A gene)
TUBA1A
Lissencephaly due to TUBA1A mutation
Centrum Medische Genetica - UZ Brussel VUB
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
Crisponi syndrome
CRLF1
Crisponi syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Resistance to vitamin K antagonists - VKORC1 sequencing (all exons ) - Pharmacogenetics
VKORC1
Resistance to vitamin K antagonists
,
Prediction of resistance to vitamin K antagonists
Centre de Génétique Médicale UCL
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