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American Journal of Human Genetics|November 26, 2019
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaAriana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, et al.Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.Brain : a Journal of Neurology|September 2, 2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyRita Horvath, John P Kemp, Helen A L Tuppen, et al.Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.Pageof 4