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Congenital Central Hypoventilation Syndrome / Ondine syndrome
PHOX2B
Congenital central hypoventilation syndrome
Centrum Medische Genetica - UZ Gent
Neuroblastoma (2 genes)
ALK
,
PHOX2B
Neuroblastoma (2 genes) - UCL
Neuroblastoma
Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
,
Dihydropyrimidine dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD*2A, DPYD*13, D949V, HapB3) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) - Pharmacogenetics
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Menselijke Erfelijkheid - KUL
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)
TANGO2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Centrum Medische Genetica - UZ Brussel VUB
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