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Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.Cancers|April 30, 2021
Prognostic Assessment in High-Grade Soft-Tissue Sarcoma Patients: A Comparison of Semantic Image Analysis and RadiomicsJan C Peeken, Jan Neumann, Rebecca Asadpour, et al.Neurology. Genetics|February 12, 2020
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 4, 2020
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology GuidelineNadine M Tung, Judy C Boughey, Lori J Pierce, et al.American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.Human Mutation|July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney DiseaseJulia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.Pageof 69