Martin Hrebicek

Author PubWeight™ 9.83^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.	J Mol Med (Berl)	2005	1.55
2	Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.	Blood Cells Mol Dis	2009	1.54
3	Clinical spectrum in CADASIL family with a new mutation.	Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub	2013	1.10
4	Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.	Gastroenterology	2005	0.97
5	Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.	Orphanet J Rare Dis	2014	0.90
6	Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.	Am J Med Genet A	2009	0.87
7	Iliopsoas hematoma in a young patient with type I Gaucher disease.	Isr Med Assoc J	2003	0.82
8	Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.	Hum Mutat	2010	0.79
9	New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.	Mol Genet Metab	2003	0.79
10	Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis.	Hepatol Res	2004	0.79
11	Genetic and clinical features of patients with Gaucher disease in Hungary.	Blood Cells Mol Dis	2007	0.76