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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
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
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C.
Martínez-Rubio D, et al. Among authors: bernado fonz r.
Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847.
Int J Mol Sci. 2022.
PMID: 36233161
Free PMC article.
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[Isolated attention deficit disorder with/without hyperactivity in clinical practice. Series of cases].
Marín Andrés M, Gutiérrez Sánchez AM, Martínez de Morentin Navarcorena AL, Bernadó Fonz RA, Lafuente Hidalgo M, López Pisón J.
Marín Andrés M, et al. Among authors: bernado fonz ra.
Arch Argent Pediatr. 2020 Aug;118(4):e405-e409. doi: 10.5546/aap.2020.e405.
Arch Argent Pediatr. 2020.
PMID: 32677796
Free article.
Spanish.
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[Acute mastoiditis with intracranial complication in a pediatric patient].
Laliena Aznar S, Verástegui Martínez C, Bernadó Fonz R, Baquedano Lobera I, Bustillo Alonso M.
Laliena Aznar S, et al. Among authors: bernado fonz r.
Arch Argent Pediatr. 2020 Apr;118(2):e166-e169. doi: 10.5546/aap.2020.e166.
Arch Argent Pediatr. 2020.
PMID: 32199057
Free article.
Spanish.
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[Encephalopathy due to human herpesvirus 6 infection as exanthema subitum complication].
Baquedano Lobera I, Bernadó Fonz R, Laliena Aznar S, Bustillo Alonso M, Guerrero Laleona C.
Baquedano Lobera I, et al. Among authors: bernado fonz r.
Arch Argent Pediatr. 2018 Apr 1;116(2):e312-e314. doi: 10.5546/aap.2018.e312.
Arch Argent Pediatr. 2018.
PMID: 29557623
Free article.
Spanish.
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