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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. [electronic resource] by
- Gardeitchik, Thatjana
- Mohamed, Miski
- Ruzzenente, Benedetta
- Karall, Daniela
- Guerrero-Castillo, Sergio
- Dalloyaux, Daisy
- van den Brand, Mariël
- van Kraaij, Sanne
- van Asbeck, Ellyze
- Assouline, Zahra
- Rio, Marlene
- de Lonlay, Pascale
- Scholl-Buergi, Sabine
- Wolthuis, David F G J
- Hoischen, Alexander
- Rodenburg, Richard J
- Sperl, Wolfgang
- Urban, Zsolt
- Brandt, Ulrich
- Mayr, Johannes A
- Wong, Sunnie
- de Brouwer, Arjan P M
- Nijtmans, Leo
- Munnich, Arnold
- Rötig, Agnès
- Wevers, Ron A
- Metodiev, Metodi D
- Morava, Eva
Producer: 20181211
In:
American journal of human genetics vol. 102
Availability: No items available.
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