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11781.
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11790.
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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. [electronic resource] by
- Gai, Xiaowu
- Ghezzi, Daniele
- Johnson, Mark A
- Biagosch, Caroline A
- Shamseldin, Hanan E
- Haack, Tobias B
- Reyes, Aurelio
- Tsukikawa, Mai
- Sheldon, Claire A
- Srinivasan, Satish
- Gorza, Matteo
- Kremer, Laura S
- Wieland, Thomas
- Strom, Tim M
- Polyak, Erzsebet
- Place, Emily
- Consugar, Mark
- Ostrovsky, Julian
- Vidoni, Sara
- Robinson, Alan J
- Wong, Lee-Jun
- Sondheimer, Neal
- Salih, Mustafa A
- Al-Jishi, Emtethal
- Raab, Christopher P
- Bean, Charles
- Furlan, Francesca
- Parini, Rossella
- Lamperti, Costanza
- Mayr, Johannes A
- Konstantopoulou, Vassiliki
- Huemer, Martina
- Pierce, Eric A
- Meitinger, Thomas
- Freisinger, Peter
- Sperl, Wolfgang
- Prokisch, Holger
- Alkuraya, Fowzan S
- Falk, Marni J
- Zeviani, Massimo
Producer: 20131105
In:
American journal of human genetics vol. 93
Availability: No items available.
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11791.
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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. [electronic resource] by
- Kott, Esther
- Legendre, Marie
- Copin, Bruno
- Papon, Jean-François
- Dastot-Le Moal, Florence
- Montantin, Guy
- Duquesnoy, Philippe
- Piterboth, William
- Amram, Daniel
- Bassinet, Laurence
- Beucher, Julie
- Beydon, Nicole
- Deneuville, Eric
- Houdouin, Véronique
- Journel, Hubert
- Just, Jocelyne
- Nathan, Nadia
- Tamalet, Aline
- Collot, Nathalie
- Jeanson, Ludovic
- Le Gouez, Morgane
- Vallette, Benoit
- Vojtek, Anne-Marie
- Epaud, Ralph
- Coste, André
- Clement, Annick
- Housset, Bruno
- Louis, Bruno
- Escudier, Estelle
- Amselem, Serge
Producer: 20131105
In:
American journal of human genetics vol. 93
Availability: No items available.
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11792.
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