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Medientyp
- Text 3
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Erscheinungsjahr
Autor/in
- Alston, Charlotte L
- Abela, Lucia 1
- Ahting, Uwe 1
- Ban, Rui 1
- Barbosa, Inês A 1
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Sprache
- Englisch 3
3 Einträge gefunden
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Clinical implementation of RNA sequencing for Mendelian disease diagnostics
- Yépez, Vicente A
- Gusic, Mirjana
- Kopajtich, Robert
- Mertes, Christian
- Smith, Nicholas H
- Alston, Charlotte L
- Ban, Rui
-
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
- Glasgow, Ruth I C
- Thompson, Kyle
- Barbosa, Inês A
- He, Langping
- Alston, Charlotte L
- Deshpande, Charu
- Simpson, Michael A
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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
- Ahting, Uwe
- Mayr, Johannes A
- Vanlander, Arnaud V
- Hardy, Steven A
- Santra, Saikat
- Makowski, Christine
- Alston, Charlotte L