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Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)
Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
B-cell chronic lymphocytic leukemia
,
Inherited acute myeloid leukemia
,
Chronic myeloid leukemia
,
Atypical chronic myeloid leukemia
,
Precursor B-cell acute lymphoblastic leukemia
,
Familial platelet disorder with associated myeloid malignancy
,
DDX41-related hematologic malignancy predisposition syndrome
,
Idiopathic aplastic anemia
Centre de Génétique Humaine - CHU Sart-Tilman
Bile Acid Primary Malabsorption
SLC10A2
Bile acid primary malabsorption
Centre de Génétique Médicale UCL
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