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American Journal of Medical Genetics. Part A|May 24, 2023
Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotypePaula Sirera Sirera, Elena García-Payá, Julia Olivas García, et al.Revista De Neurologia|February 25, 2015
[Intragenic deletions of NRXN1: three new case reports and a review of the phenotype]Francisco Galán-Sánchez, Vanessa Esteban-Cantó, Pedro Blaya-Fernández, et al.Revista De Neurologia|November 23, 2013
[Anti-NMDA receptor encephalitis: two paediatric cases]M Cristina González-Toro, Rocío Jadraque-Rodríguez, Ángela Sempere-Pérez, et al.Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.Pageof 1