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Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
M. Skorvanek, P. Dusek, M. Rydzanicz, A. Walczak, J. Kosinska, G. Kostrzewa, M. Brzozowska, V. Han, P. Dosekova, Z. Gdovinova, Z. Lehotska, P. Lisowski, R. Ploski,
Jazyk angličtina Země Velká Británie
Typ dokumentu kazuistiky, dopisy, práce podpořená grantem
- MeSH
- dospělí MeSH
- fenotyp * MeSH
- jaderné proteiny genetika MeSH
- lidé MeSH
- mutace genetika MeSH
- neurovývojové poruchy diagnostické zobrazování genetika MeSH
- transportní proteiny genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- dopisy MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
Department of Forensic Medicine Medical University of Warsaw Warsaw Poland
Department of Medical Genetics Medical University of Warsaw Warsaw Poland
Department of Neurology Faculty of Medicine P J Safarik University Kosice Slovak Republic
Department of Neurology University Hospital of L Pasteur Kosice Slovak Republic
Department of Radiology University Hospital of L Pasteur Kosice Slovak Republic
Institute of Genetics and Animal Breeding Polish Academy of Sciences Jastrzebiec Magdalenka Poland
Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany
Citace poskytuje Crossref.org
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- $a Skorvanek, Matej $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic. Electronic address: matej.skorvanek@upjs.sk.
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- $a Dusek, Petr $u Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
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- $a Rydzanicz, Malgorzata $u Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
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- $a Dosekova, Petra $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic.
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- $a Lehotska, Zdenka $u Department of Radiology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
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- $a Lisowski, Pawel $u Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Jastrzebiec, Magdalenka, Poland; Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany. Electronic address: lisowski884@gmail.com.
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- $a Ploski, Rafal $u Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address: rploski@wp.pl.
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