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Hypoparathyroidism sensorineural deafness and renal disease
GATA3
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics
UGT1A1
Transient familial neonatal hyperbilirubinemia
,
Irinotecan toxicity
,
Raltegravir toxicity
Centre de Génétique Médicale UCL
Occipital horn syndrome / Distal Spinal Muscular atrophy
ATP7A
Occipital horn syndrome
,
X-linked distal spinal muscular atrophy type 3
Centrum Medische Genetica - UZ Gent
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