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Search for publications relevant for "manifestation of new mutations"
manifestation of new mutations
Publication
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Person
Publication
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publication
Biochemical manifestations of mitochondrial mutation in MTATP6 gene
Publication without faculty affiliation
publication
Heterogeneous Manifestation of Heteroplasmic mtDNA Mutation 8993T-G in Two Families
2002 |
Faculty of Physical Education and Sport
publication
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
2007 |
Second Faculty of Medicine
publication
Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome
2014 |
Second Faculty of Medicine
publication
Claudin 16 and 19 and their role in mineral homeostasis
2008 |
Publication without faculty affiliation
publication
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
1992 |
Second Faculty of Medicine
publication
The effect of genetic background on behavioral manifestation of Grid2(Lc) mutation
2014 |
Faculty of Medicine in Pilsen
publication
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
2017 |
First Faculty of Medicine