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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: garcia penas jj. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
[Evolutive neuroradiological alterations in Sandhoff's disease].
Gutiérrez-Solana LG, Ruiz-Falcó ML, García-Peñas JJ, Chabás A, Manzano-Blanco S, Gómez-Mardones G, López-Terradas JM. Gutiérrez-Solana LG, et al. Rev Neurol. 1996 Oct;24(134):1263-6. Rev Neurol. 1996. PMID: 8983726 Spanish.
[Cerebral malaria in children].
García-Peñas JJ, Quintero V, Gutiérrez-Solana LG, Ruiz-Falcó ML. García-Peñas JJ, et al. Rev Neurol. 2000 Jan 1-15;30(1):15-20. Rev Neurol. 2000. PMID: 10742990 Spanish.
[Gerstmann's syndrome in a 9 year old boy].
Fournier del Castillo C, García-Peñas JJ, Gutiérrez-Solana LG, Ruiz-Falcó Rojas ML. Fournier del Castillo C, et al. Rev Neurol. 2000 Apr 16-30;30(8):731-6. Rev Neurol. 2000. PMID: 10893737 Spanish.
116 results