| Body na spoluautora | Body za publikaci pro MU | Odkaz ISVaV | | 1,46 | 10,19 | Point mutations in Czech DMD/BMD patients and their phenotypic outcome
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| 0,56 | 2,25 | Substituce v promotoru CYP21 genu ovlivňující fenotyp nemoci u pacientů s deficitem 21-hydroxylázy
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| 0,00 | 0,00 | Zavedení DNA čipu do molekulární diagnostiky Wilsonovy choroby
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| 1,01 | 4,03 | Analysis of SMN gene regions in patients with spinal muscular atrophy
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| 1,01 | 4,03 | Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients
|
| 0,00 | 0,00 | Introduction of DNA microarray in molecular diagnostics of Wilson disease
|
| 6,86 | 20,57 | X-linked Charcot-Marie-Tooth Disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
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| 1,33 | 4,00 | Myotonická dystrofie typ 2: vzácné nebo časté onemocnění v České republice?
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| 1,33 | 4,00 | Myotonická dystrofie typ 2: vzácné nebo časté onemocnění v České republice?
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| 0,00 | 0,00 | Experiences with mutation analysis of epidermolysis bullosa in the Czech republic
|
| 1,34 | 6,72 | Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid
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| 0,00 | 0,00 | Myotonic dystrophy type 2
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| 0,40 | 2,77 | New Perspectives in the Treatment of Inherited Neuromuscular Disorders: Innovative Ideas for the Third Millenium
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| 3,36 | 6,72 | Molecular genetic diagnostics of myotonic dystrophy and facioscapulohumeral muscular dystrophy in Czech patients
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| 0,00 | 0,00 | Mutation Analysis of Epidermolysis Bullosa in the Czech Republic
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| 0,00 | 0,00 | Mutation Analysis of Dystrophic Epidermolysis Bullosa in the Czech Republic
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| 1,68 | 6,72 | Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay
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| 2,99 | 8,97 | An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.
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| 0,00 | 0,00 | Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: identification and characterization of large rearrangements in LDLR gene
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| 4,06 | 20,32 | Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
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| 2,24 | 6,72 | Analysis of point mutations in the SMN1 gene in Czech SMA patients
|
| 3,43 | 20,56 | Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
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| 2,81 | 19,70 | Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay
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| 1,58 | 9,50 | Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients
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| 0,00 | 0,00 | Analysis of molecular pathologic findings in Czech LGMD2A patients
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| 1,58 | 6,33 | Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
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| 9,15 | 36,58 | An unusual case of congenital muscular dystrophy with mitochodnrial structural abnormalities.
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| 0,00 | 0,00 | X-vázaná dilatační kardiomyopatie v důsledku mutace genu pro dystrofin(XP21)
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(c) Michal Bulant, 2011