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Page 1
LZTR1: Genotype Expansion in Noonan Syndrome.
Güemes M, Martín-Rivada Á, Ortiz-Cabrera NV, Martos-Moreno GÁ, Pozo-Román J, Argente J. Güemes M, et al. Horm Res Paediatr. 2019;92(4):269-275. doi: 10.1159/000502741. Epub 2019 Sep 18. Horm Res Paediatr. 2019. PMID: 31533111
Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.
Gutiérrez-Delicado E, García-Fernández M, Ortiz Cabrera NV, Soto Insuga V, Justel Rodríguez M, Duat-Rodríguez A, Caicoya AG, Álvarez-Linera Prado J, Solís Muñiz I, Pérez-Jiménez MÁ. Gutiérrez-Delicado E, et al. Among authors: ortiz cabrera nv. Pediatr Neurol. 2024 Nov 10;163:7-11. doi: 10.1016/j.pediatrneurol.2024.11.003. Online ahead of print. Pediatr Neurol. 2024. PMID: 39631264
Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis.
Galán-Olleros M, González-Alguacil E, Soto-Insuga V, Vara-Arias MT, Ortiz-Cabrera NV, Egea-Gámez RM, García-Peñas JJ, Martínez-Caballero I; RTT‐HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús. Galán-Olleros M, et al. Among authors: ortiz cabrera nv. J Intellect Disabil Res. 2024 Dec;68(12):1331-1343. doi: 10.1111/jir.13193. Epub 2024 Oct 21. J Intellect Disabil Res. 2024. PMID: 39429113 Review.
Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.
Galán-Olleros M, González-Alguacil E, Soto-Insuga V, Vara-Arias MT, Ortiz-Cabrera NV, Serrano JI, Egea-Gámez RM, García-Peñas JJ, Martínez-Caballero I; RTT-HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús. Galán-Olleros M, et al. Among authors: ortiz cabrera nv. J Autism Dev Disord. 2024 May 25. doi: 10.1007/s10803-024-06399-y. Online ahead of print. J Autism Dev Disord. 2024. PMID: 38795288
[Case report: Scapular asymmetry caused by congenital unilateral absence of trapezius].
Ciller Martínez M, Rodríguez Palero S, Vara Arias T, Cartas Carrión S, Escribano Pérez M, Ortiz Cabrera NV, Manzarbeitia Arroba P. Ciller Martínez M, et al. Among authors: ortiz cabrera nv. Rehabilitacion (Madr). 2024 Jan-Mar;58(1):100825. doi: 10.1016/j.rh.2023.100825. Epub 2023 Dec 22. Rehabilitacion (Madr). 2024. PMID: 38141278 Spanish.
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.
López-Balboa P, Martos-Cabrera L, Ramírez-Lluch M, Noguera-Morel L, Ortiz-Cabrera NV, González-Sarmiento R, Torrelo A, Hernández-Martín Á. López-Balboa P, et al. Among authors: ortiz cabrera nv. J Eur Acad Dermatol Venereol. 2022 Oct;36(10):e789-e790. doi: 10.1111/jdv.18271. Epub 2022 Jun 7. J Eur Acad Dermatol Venereol. 2022. PMID: 35633076 No abstract available.
[Variability of the clinical expression of KCNB1 encephalopathy].
Púa-Torrejón RC, González-Alguacil E, Soto-Insuga V, Moreno-Cantero T, Ortiz-Cabrera NV, Pérez-Poyato MS, Ruiz Falcó-Rojas ML, García-Peñas JJ. Púa-Torrejón RC, et al. Among authors: ortiz cabrera nv. Rev Neurol. 2021 Nov 16;73(12):403-408. doi: 10.33588/rn.7312.2021267. Rev Neurol. 2021. PMID: 34877642 Free article. Spanish.
Scabies in a 14-year-old girl with superficial epidermolytic ichthyosis.
Vázquez-Osorio I, Moreiras-Arias N, Pérez-Feal P, Sainz-Gaspar L, Ortiz-Cabrera NV, Hernández-Martín A. Vázquez-Osorio I, et al. Among authors: ortiz cabrera nv. Pediatr Dermatol. 2022 Mar;39(2):305-306. doi: 10.1111/pde.14867. Epub 2021 Nov 14. Pediatr Dermatol. 2022. PMID: 34779035
24 results