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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
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.
Arruti N, Rodríguez-Solana P, Nieves-Moreno M, Guerrero-Carretero M, Del Pozo Á, Montaño VEF, Santos-Simarro F, Rikeros-Orozco E, Delgado-Mora L, Vallespín E, Noval S.
Arruti N, et al. Among authors: rikeros orozco e.
Curr Issues Mol Biol. 2023 Jan 5;45(1):465-478. doi: 10.3390/cimb45010030.
Curr Issues Mol Biol. 2023.
PMID: 36661516
Free PMC article.
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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
González-Atienza C, Sánchez-Cazorla E, Villoldo-Fernández N, Del Hierro A, Boto A, Guerrero-Carretero M, Nieves-Moreno M, Arruti N, Rodríguez-Solana P, Mena R, Rodríguez-Jiménez C, Rosa-Pérez I, Acal JC, Blasco J, Naranjo-Castresana M, Ruz-Caracuel B, Montaño VEF, Ortega Patrón C, Rubio-Martín ME, García-Fernández L, Rikeros-Orozco E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E.
González-Atienza C, et al. Among authors: rikeros orozco e.
Genes (Basel). 2023 Sep 22;14(10):1838. doi: 10.3390/genes14101838.
Genes (Basel). 2023.
PMID: 37895187
Free PMC article.
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