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Zugriff
Einrichtung
Medientyp
- Text 2
Karte
Erscheinungsjahr
Autor/in
- Shukla, Anju
- von Elsner, Leonie
- Bhattacharyya, Shaila S 1
- Bhavani, Gandham S 1
- Bhavani, Gandham SriLakshmi 1
- alle zeigen
Sprache
- Englisch 2
2 Einträge gefunden
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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
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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