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CHARGE syndrome
CHD7
CHARGE syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Cerebral folate transport deficiency (2 genes)
FOLR1
,
FOLR2
Cerebral folate transport deficiency (2 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Arterial Tortuosity Syndrome
SLC2A10
,
EFEMP2
Arterial tortuosity syndrome
Centrum Medische Genetica - UZ Gent
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