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Medientyp
- Text 3
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Erscheinungsjahr
Autor/in
- von Elsner, Leonie
- Holling, Tess 2
- Abdel-Salam, Ghada M H 1
- Alawi, Malik 1
- Arndt, Florian 1
- alle zeigen
Sprache
- Englisch 3
3 Einträge gefunden
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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
- Dahimene, Shehrazade
- von Elsner, Leonie
- Holling, Tess
- Mattas, Lauren S
- Pickard, Jess
- Lessel, Davor
- Pilch, Kjara S
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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
- von Elsner, Leonie
- Chai, Guoliang
- Schneeberger, Pauline E
- Harms, Frederike L
- Casar, Christian
- Qi, Minyue
- Alawi, Malik
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A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
- Holling, Tess
- Bhavani, Gandham S
- von Elsner, Leonie
- Shah, Hitesh
- Kausthubham, Neethukrishna
- Bhattacharyya, Shaila S
- Shukla, Anju