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Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.Nature|June 26, 1997
Congenital leptin deficiency is associated with severe early-onset obesity in humansC T Montague, I S Farooqi, J P Whitehead, et al.Journal of Medical Genetics|March 10, 2001
Clinical studies on submicroscopic subtelomeric rearrangements: a checklistB B de Vries, S M White, S J Knight, et al.European Journal of Human Genetics : EJHG|June 30, 2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen, William Reardon, Elisabeth M Rosser, et al.American Journal of Medical Genetics|December 11, 1996
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated familiesR M Hughes-Benzie, G Pilia, J Y Xuan, et al.Cancer Research|May 19, 2026
Ketogenic Diet Prevents Obesity-Associated Pancreatic Cancer Independent of Weight Loss and Induces Pancreatic Metabolic ReprogrammingEricka Vélez-Bonet, Kristyn Gumpper-Fedus, Kaylin M Chasser, et al.Circulation|July 12, 2013
Mitochondrial DNA damage can promote atherosclerosis independently of reactive oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humansEmma Yu, Patrick A Calvert, John R Mercer, et al.Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.Molecular and Cellular Biology|May 18, 2016
Novel MicroRNA Regulators of Atrial Natriuretic Peptide ProductionConnie Wu, Pankaj Arora, Obiajulu Agha, et al.American Journal of Human Genetics|May 5, 2009
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneStephen R F Twigg, Sarah L Versnel, Gudrun Nürnberg, et al.Pageof 34