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Human Molecular Genetics|April 12, 2012
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita Timal, Alexander Hoischen, Ludwig Lehle, et al.
Biochimica Et Biophysica Acta|December 24, 2014
Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-αFelix Distelmaier, Federica Valsecchi, Dania C Liemburg-Apers, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Biochimica Et Biophysica Acta. Bioenergetics|April 27, 2020
NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4<sup>-/-</sup> mice and Leigh syndrome patients: A stabilizing role for NDUFAF2Merel J W Adjobo-Hermans, Ria de Haas, Peter H G M Willems, et al.
The Journal of Clinical Investigation|February 24, 2007
Overexpression of Akt converts radial growth melanoma to vertical growth melanomaBaskaran Govindarajan, James E Sligh, Bethaney J Vincent, et al.
Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.
Free Radical Biology & Medicine|June 19, 2022
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblastsElianne P Bulthuis, Claudia Einer, Felix Distelmaier, et al.
Biochimica Et Biophysica Acta|March 21, 2012
Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblastsFederica Valsecchi, Claire Monge, Marleen Forkink, et al.
Clinical Genetics|January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunctionDaan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.
Lancet (London, England)|July 17, 2007
Sequential versus combination chemotherapy with capecitabine, irinotecan, and oxaliplatin in advanced colorectal cancer (CAIRO): a phase III randomised controlled trialMiriam Koopman, Ninja F Antonini, Joep Douma, et al.
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