Showing 1–5 of 5 results
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Genetic diagnosis of Mendelian disorders via RNA sequencing
- Laura S. Kremer
- , Daniel M. Bader
- , Christian Mertes
- , Robert Kopajtich
- , Garwin Pichler
- , Arcangela Iuso
- , Tobias B. Haack
- , Elisabeth Graf
- , Thomas Schwarzmayr
- , Caterina Terrile
- , Eliška Koňaříková
- , Birgit Repp
- , Gabi Kastenmüller
- , Jerzy Adamski
- , Peter Lichtner
- , Christoph Leonhardt
- , Benoit Funalot
- , Alice Donati
- , Valeria Tiranti
- , Anne Lombes
- , Claude Jardel
- , Dieter Gläser
- , Robert W. Taylor
- , Daniele Ghezzi
- , Johannes A. Mayr
- , Agnes Rötig
- , Peter Freisinger
- , Felix Distelmaier
- , Tim M. Strom
- , Thomas Meitinger
- , Julien Gagneur
- & Holger Prokisch
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
- Cécile Rouzier
- , Annabelle Chaussenot
- , Valérie Serre
- , Konstantina Fragaki
- , Sylvie Bannwarth
- , Samira Ait-El-Mkadem
- , Shahram Attarian
- , Elsa Kaphan
- , Aline Cano
- , Emilien Delmont
- , Sabrina Sacconi
- , Bénédicte Mousson de Camaret
- , Marlène Rio
- , Anne-Sophie Lebre
- , Claude Jardel
- , Romain Deschamps
- , Christian Richelme
- , Jean Pouget
- , Brigitte Chabrol
- & Véronique Paquis-Flucklinger
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