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- Kortüm, Fanny
- Alawi, Malik 1
- Berry, Susan A 1
- Bokelmann, Kristin 1
- Borck, Guntram 1
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- Englisch 3
3 Einträge gefunden
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
- Kortüm, Fanny
- Jamra, Rami Abou
- Alawi, Malik
- Berry, Susan A
- Borck, Guntram
- Helbig, Katherine L
- Tang, Sha
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
- Johannsen, Jessika
- Kortüm, Fanny
- Rosenberger, Georg
- Bokelmann, Kristin
- Schirmer, Markus A
- Denecke, Jonas
- Santer, René
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Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
2018 - Forschungsinformationssystem des UKE