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Congenital chloride diarrhea
Gene: SLC26A3
Caroli disease
Gene: PKHD1_MLPA
Caudal regression syndrome
Gene: VANGL1
Caroli disease
Gene: PKHD1
Arthrogryposis, renal dysfunction, cholestasis syndrome
Gene: VPS33B
Alström syndrome
Gene: ALMS1
3-methylcrotonyl-CoA carboxylase deficiency 1
Gene: MCCC1
3-methylcrotonyl-CoA carboxylase deficiency 2
Gene: MCCC2
Lactose intolerance
Gene: LCT: -13910C>T
Wilson disease
Gene: ATP7B: His1069Gln
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