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Studium
MUDr. Eva Flachsová Ph.D.
Externí osoba na 1. lékařská fakulta
31 publikací
Publikace
publication
Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease
2017 |
1. lékařská fakulta
publication
A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family
2007 |
1. lékařská fakulta
publication
De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study
2006 |
1. lékařská fakulta
publication
Novel mutation in Porphobilinogen deaminase gene in a family with acute intermittent porphyria from Nepal
Publikace bez příslušnosti k fakultě
publication
Molecular analysis of the porphobilinogen deaminase gene in newly (2004) diagnozed Czech and Slovak acute intermittent porphyria patients: Report of three novel mutations
Publikace bez příslušnosti k fakultě
publication
Novel mutations in the porphobilinogen deaminase gene in Czech and Slovak acute intermittent porphyria patients
Publikace bez příslušnosti k fakultě
publication
Mutation screening in the ATP7A gene in czech patients with Menkes disease: identification of a novel mutation
Publikace bez příslušnosti k fakultě
publication
Acute intermittent porphyria: identification of three novel mutations in the porphobilinogen deaminase gene in Czech and Slovak patients
Publikace bez příslušnosti k fakultě
publication
Novel mutations in the porphobilinogen deaminase gene in Czech acute intermittent porphyria patiens
Publikace bez příslušnosti k fakultě
publication
Mutations in genes coding for ATP7A and ATP7B (causing Mankes and Wilson disease) in Czech Republic
Publikace bez příslušnosti k fakultě
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