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MUDr. Martin Hřebíček Ph.D.
Academic staff at First Faculty of Medicine
117 publications
Publications
publication
Clinical spectrum in CADASIL family with a new mutation
2013 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
2013 |
First Faculty of Medicine
publication
Diagnosis and Treatment Options for Niemann-Pick Disease Type C
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations
2009 |
First Faculty of Medicine
publication
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein
2009 |
First Faculty of Medicine
publication
Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene
2009 |
First Faculty of Medicine
publication
Unusual presentation of Kelley-Seegmiller syndrome
2008 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Unusual cause of stroke: CADASIL with novel mutation in Czech patient
2006 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mutation in TMEM76 cause mucopolysacharidosis III C syndrome
2006 |
First Faculty of Medicine
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