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Brain : a Journal of Neurology|April 12, 2012
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutationsMarjan E Steenweg, Daniele Ghezzi, Tobias Haack, et al.
American Journal of Human Genetics|December 9, 2017
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait AbnormalitiesSonja Martin, Adam Chamberlin, Deepali N Shinde, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
American Journal of Medical Genetics. Part A|November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsNicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
The Journal of Clinical Investigation|August 9, 2016
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomasDavide Calebiro, Elisa S Grassi, Markus Eszlinger, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI studyVeronika Sanin, Raphael Schmieder, Sara Ates, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|May 4, 2020
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary NephropathiesKorbinian M Riedhammer, Matthias C Braunisch, Roman Günthner, et al.
Molecular Vision|December 1, 2011
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mappingAnna M Siemiatkowska, Kentar Arimadyo, Luminita M Moruz, et al.
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