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Medientyp
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Autor/in
- Kutsche, Kerstin
- von Elsner, Leonie
- Bhavani, Gandham SriLakshmi 1
- Bierhals, Tatjana 1
- Brandenstein, Laura Isabel 1
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Sprache
- Englisch 3
3 Einträge gefunden
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
- Girisha, Katta M
- von Elsner, Leonie
- Neethukrishna, Kausthubham
- Muranjan, Mamta
- Shukla, Anju
- Bhavani, Gandham SriLakshmi
- Nishimura, Gen
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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
- Meyer Zum Büschenfelde, Uta
- Brandenstein, Laura Isabel
- von Elsner, Leonie
- Flato, Kristina
- Holling, Tess
- Zenker, Martin
- Rosenberger, Georg