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Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, 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.
The CRISPR Journal|April 20, 2021
Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base EditingAndreas C Eberherr, Andre Maaske, Christine Wolf, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
Neuro-Oncology|June 22, 2019
Driver mutations in USP8 wild-type Cushing's diseaseSilviu Sbiera, Luis Gustavo Perez-Rivas, Lyudmyla Taranets, et al.
Hypertension (Dallas, Tex. : 1979)|December 29, 2011
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronismPaolo Mulatero, Philipp Tauber, Maria-Christina Zennaro, et al.
American Journal of Medical Genetics. Part A|February 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutationsIsabelle C Windheuser, Jessica Becker, Kirsten Cremer, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2016
Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg MutationCristina L Ronchi, Guido Di Dalmazi, Simon Faillot, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Hypertension (Dallas, Tex. : 1979)|May 29, 2014
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenomaFabio Luiz Fernandes-Rosa, Tracy Ann Williams, Anna Riester, et al.
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