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Stickler syndrome (gene panel)
Stickler syndrome - UGent
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal dominant otospondylomegaepiphyseal dysplasia
Centrum Medische Genetica - UZ Gent
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
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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