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Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Li-Fraumeni Syndrome
TP53
Li-Fraumeni syndrome
Centre de Génétique Médicale UCL
Li-Fraumeni Syndrome
TP53
Li-Fraumeni syndrome
Centrum Medische Genetica - UZ Gent
Breast cancer, hereditary / Li-Fraumeni syndrome (Hot spot mutation - 1100delC)
CHEK2
Li-Fraumeni syndrome
,
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Li-Fraumeni Syndrome (TP53 gene)
TP53
Li-Fraumeni syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
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
Becker nevus
ACTB
Becker nevus syndrome
Centrum Menselijke Erfelijkheid - KUL
FSHR - Ovarian Hyperstimulation Syndrome
FSHR
Ovarian hyperstimulation syndrome
,
Primary ovarian failure (NON RARE IN EUROPE)
Centre de Génétique Humaine - Erasme ULB
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