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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clin Genet. 2024 Feb;105(2):140-149. doi: 10.1111/cge.14440. Epub 2023 Oct 30.
Clin Genet. 2024.
PMID: 37904618
Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain.
Leiva-Gea I, Fernández CA, Cardona-Hernandez R, Lozano MF, Bahíllo-Curieses P, Arroyo-Díez J, León MC, Martín-Frías M, Barreiro SC, Delgado AM, Sánchez JP; Diabetes Group of the Spanish Pediatric Endocrinology Society (SEEP).
Leiva-Gea I, et al. Among authors: barreiro sc.
J Clin Med. 2022 Jul 26;11(15):4338. doi: 10.3390/jcm11154338.
J Clin Med. 2022.
PMID: 35893428
Free PMC article.
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P.
Tenorio J, et al.
Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4.
Eur J Hum Genet. 2020.
PMID: 31685998
Free PMC article.
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