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Medientyp
- Text 5
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Erscheinungsjahr
Autor/in
- Kutsche, Kerstin
- Bierhals, Tatjana 2
- Schneeberger, Pauline E 2
- Altmüller, Janine 1
- Baker, Laura 1
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Sprache
- Englisch 5
5 Einträge gefunden
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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
- Kloth, Katja
- Bierhals, Tatjana
- Johannsen, Jessika
- Harms, Frederike L
- Juusola, Jane
- Johnson, Mark C
- Grange, Dorothy K
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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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Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
- Mühlstädt, Kristina
- De Backer, Julie
- von Kodolitsch, Yskert
- Kutsche, Kerstin
- Muiño Mosquera, Laura
- Brickwedel, Jens
- Girdauskas, Evaldas
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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
- Bauer, Christiane K
- Schneeberger, Pauline E
- Kortüm, Fanny
- Altmüller, Janine
- Santos-Simarro, Fernando
- Baker, Laura
- Keller-Ramey, Jennifer
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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich