|
Quijada-Fraile P, Arranz Canales E, Martin-Hernandez E, Ballesta-Martinez MJ, Guillen-Navarro E, Pintos-Morell G, Molto-Abad M, Moreno-Martinez D, Garcia Morillo S, Blasco-Alonso J, Couce ML, Gil Sanchez R, Cortes-Saladelafont E, Lopez Rodriguez MA, Garcia-Silva MT, Morales Conejo M. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. PubMed PMID: 34732228; PubMed Central PMCID: PMC8565075.
AÑO: 2021
|
34732228
|
Sanchez Soler MJ, Lopez-Gonzalez V, Ballesta-Martinez MJ, Galvez-Pradillo J, Nicolas-Arnao M, Gomez-Sanchez E, Perez-Fernandez V, Guillen Navarro E. Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study. An Pediatr (Engl Ed). 2021 Dec;95(6):448-458. doi: 10.1016/j.anpede.2021.06.009. Epub 2021 Nov 29. PubMed PMID: 34857501.
AÑO: 2021
|
|
Palencia-Campos A, Martinez-Fernandez ML, Altunoglu U, Soto-Bielicka P, Torres A, Marin P, Aller E, Senturk L, Berkoz O, Yildiran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchis-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillen-Navarro E, Lopez-Gonzalez V, Ballesta-Martinez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sanchez E, Ruiz-Perez VL. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. PubMed PMID: 31549748.
AÑO: 2020; IF: 4.878
|
|
Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta Martinez MJ, Guillen-Navarro E. [First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27. No abstract available. Spanish. PubMed PMID: 31147255.
AÑO: 2020; IF: 1.5
|
|
Sanchez-Soler MJ, Lopez-Gonzalez V, Ballesta-Martinez MJ, Galvez-Pradillo J, Domingo-Martinez R, Perez-Fernandez V, Guillen-Navarro E. [Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study]. An Pediatr (Engl Ed). 2020 Apr;92(4):200-207. doi: 10.1016/j.anpedi.2019.07.006. Epub 2019 Sep 2. Spanish. PubMed PMID: 31488383.
AÑO: 2020; IF: 1.5
|