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Genetic diagnosis of Mendelian disorders via RNA sequencing. [electronic resource] by
- Kremer, Laura S
- Bader, Daniel M
- Mertes, Christian
- Kopajtich, Robert
- Pichler, Garwin
- Iuso, Arcangela
- Haack, Tobias B
- Graf, Elisabeth
- Schwarzmayr, Thomas
- Terrile, Caterina
- Koňaříková, Eliška
- Repp, Birgit
- Kastenmüller, Gabi
- Adamski, Jerzy
- Lichtner, Peter
- Leonhardt, Christoph
- Funalot, Benoit
- Donati, Alice
- Tiranti, Valeria
- Lombes, Anne
- Jardel, Claude
- Gläser, Dieter
- Taylor, Robert W
- Ghezzi, Daniele
- Mayr, Johannes A
- Rötig, Agnes
- Freisinger, Peter
- Distelmaier, Felix
- Strom, Tim M
- Meitinger, Thomas
- Gagneur, Julien
- Prokisch, Holger
Producer: 20181121
In:
Nature communications vol. 8
Availability: No items available.
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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. [electronic resource] by
- Haack, Tobias B
- Staufner, Christian
- Köpke, Marlies G
- Straub, Beate K
- Kölker, Stefan
- Thiel, Christian
- Freisinger, Peter
- Baric, Ivo
- McKiernan, Patrick J
- Dikow, Nicola
- Harting, Inga
- Beisse, Flemming
- Burgard, Peter
- Kotzaeridou, Urania
- Kühr, Joachim
- Himbert, Urban
- Taylor, Robert W
- Distelmaier, Felix
- Vockley, Jerry
- Ghaloul-Gonzalez, Lina
- Zschocke, Johannes
- Kremer, Laura S
- Graf, Elisabeth
- Schwarzmayr, Thomas
- Bader, Daniel M
- Gagneur, Julien
- Wieland, Thomas
- Terrile, Caterina
- Strom, Tim M
- Meitinger, Thomas
- Hoffmann, Georg F
- Prokisch, Holger
Producer: 20150925
In:
American journal of human genetics vol. 97
Availability: No items available.
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