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Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Mori MÁ, Santos-Simarro F, García-Miñaur S, Mansilla E, Tenorio JA, Peña C, Adan C, Fernández-Elvira M, Rueda I, Lapunzina P, Nevado J. Sandoval-Talamantes AK, et al. Among authors: fernandez elvira m. Genes (Basel). 2023 Mar 29;14(4):820. doi: 10.3390/genes14040820. Genes (Basel). 2023. PMID: 37107578 Free PMC article.
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Tenorio-Castaño JA, Santos-Simarro F, Adán C, Fernández-Elvira M, García-Fernández L, Muñoz Y, Lapunzina P, Nevado J. Sandoval-Talamantes AK, et al. Among authors: fernandez elvira m. Genes (Basel). 2023 Nov 17;14(11):2091. doi: 10.3390/genes14112091. Genes (Basel). 2023. PMID: 38003033 Free PMC article.
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.
Rodríguez-Contreras FJ, Marbán-Calzón M, Vallespín E, Del Pozo Á, Solís-López M, Lobato-Vidal N, Fernández-Elvira M, Del Valle Rex-Romero M, Heath KE, González-Casado I, Campos-Barros Á. Rodríguez-Contreras FJ, et al. Among authors: fernandez elvira m. Am J Med Genet A. 2019 Aug;179(8):1591-1597. doi: 10.1002/ajmg.a.61201. Epub 2019 May 23. Am J Med Genet A. 2019. PMID: 31120642