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Research |
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
- Alena Čížková
- , Viktor Stránecký
- , Johannes A Mayr
- , Markéta Tesařová
- , Vendula Havlíčková
- , Jan Paul
- , Robert Ivánek
- , Andreas W Kuss
- , Hana Hansíková
- , Vilma Kaplanová
- , Marek Vrbacký
- , Hana Hartmannová
- , Lenka Nosková
- , Tomáš Honzík
- , Zdeněk Drahota
- , Martin Magner
- , Kateřina Hejzlarová
- , Wolfgang Sperl
- , Jiří Zeman
- , Josef Houštěk
- & Stanislav Kmoch
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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Lars R Jensen
- , Wei Chen
- , Bettina Moser
- , Bettina Lipkowitz
- , Christopher Schroeder
- , Luciana Musante
- , Andreas Tzschach
- , Vera M Kalscheuer
- , Ilaria Meloni
- , Martine Raynaud
- , Hilde van Esch
- , Jamel Chelly
- , Arjan P M de Brouwer
- , Anna Hackett
- , Sigrun van der Haar
- , Wolfram Henn
- , Jozef Gecz
- , Olaf Riess
- , Michael Bonin
- , Richard Reinhardt
- , Hans-Hilger Ropers
- & Andreas W Kuss
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Research |
