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Clinica Chimica Acta; International Journal of Clinical Chemistry|July 4, 2018
Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disabilityM-L Vuillaume, B Cogné, M Jeanne, et al.
American Journal of Medical Genetics. Part A|November 13, 2025
Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2A Civit, L Kerbellec, D Laurenceau, et al.
Molecular Psychiatry|April 19, 2017
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseD C Ung, G Iacono, H Méziane, et al.
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