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Parkinsonism & Related Disorders|December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoformOlivia J Rickman, Claire G Salter, Adam C Gunning, et al.
The Journal of Hospital Infection|January 22, 2013
Evaluation of surveillance for surgical site infections in Thika Hospital, KenyaA M Aiken, A K Wanyoro, J Mwangi, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Nature Communications|October 27, 2021
Quantifying previous SARS-CoV-2 infection through mixture modelling of antibody levelsC Bottomley, M Otiende, S Uyoga, et al.
American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
Nature Communications|October 29, 2023
Impact of COVID-19 on mortality in coastal Kenya: a longitudinal open cohort studyM Otiende, A Nyaguara, C Bottomley, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorderLettie E Rawlins, Reza Maroofian, Stuart J Cannon, et al.
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