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Analytes
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Laboratory
Hypophosphatasia
ALPL
Adult hypophosphatasia
,
Infantile hypophosphatasia
,
Odontohypophosphatasia
,
Perinatal lethal hypophosphatasia
,
Childhood-onset hypophosphatasia
,
Prenatal benign hypophosphatasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Occipital horn syndrome / Distal Spinal Muscular atrophy
ATP7A
Occipital horn syndrome
,
X-linked distal spinal muscular atrophy type 3
Centrum Medische Genetica - UZ Gent
Hemophilia A
F8
Hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Mild hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centre de Génétique Médicale UCL
Hemophilia A
F8
Hemophilia A
,
Mild hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Bleeding disorder in hemophilia A carriers
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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