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Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540)
FGFR3
Hypochondroplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing)
FGFR3
Hypochondroplasia
Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys))
FGFR3
Hypochondroplasia
Centre de Génétique Humaine - CHU Sart-Tilman
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
Alport autosomal recessive and X-linked and hematuria (3 genes)
COL4A3
,
COL4A4
,
COL4A5
Alport (X-linked and recessive) (3 genes) - IPG
Autosomal recessive Alport syndrome
,
X-linked Alport syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypercholesterolemia, Familial (9 genes)
LDLR
,
APOB
,
APOE
,
PCSK9
,
ABCG5
,
ABCG8
,
LDLRAP1
,
LIPA
,
STAP1
Familial Hypercholesterolemia panel (9 genes) - ULG
Homozygous familial hypercholesterolemia
,
Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
,
Sitosterolemia
,
Cholesteryl ester storage disease
Centre de Génétique Humaine - CHU Sart-Tilman
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