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European Journal of Endocrinology|June 2, 2017
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinaseSarah M Leiter, Victoria E R Parker, Alena Welters, et al.European Journal of Human Genetics : EJHG|November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patientsJair Tenorio, Pablo Alarcón, Pedro Arias, et al.American Journal of Medical Genetics. Part A|January 28, 2017
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of HypophosphatasiaJair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, et al.Human Mutation|September 9, 2014
A new overgrowth syndrome is due to mutations in RNF125Jair Tenorio, Alicia Mansilla, María Valencia, et al.American Journal of Ophthalmology|December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.Pageof 2