Search

Author/Creator Santos-Simarro, Fernando

1. Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature. (19th January 2017)

Authors:
Sánchez-Montenegro, Carlos; Vilanova-Sánchez, Alejandra; Barrena-Delfa, Saturnino; Tenorio, Jair; Santos-Simarro, Fernando; García-Miñaur, Sixto; Lapunzina, Pablo; Martínez-Martínez, Leopoldo
Other Names:
Cotter Philip D. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2017(2017)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021)

Authors:
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 3(2022)
Page Start:
440
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. (March 2022)

Authors:
Savarirayan, Ravi; De Bergua, Josep Maria; Arundel, Paul; McDevitt, Helen; Cormier-Daire, Valerie; Saraff, Vrinda; Skae, Mars; Delgado, Borja; Leiva-Gea, Antonio; Santos-Simarro, Fernando; Salles, Jean Pierre; Nicolino, Marc; Rossi, Massimiliano; Kannu, Peter; Bober, Michael B.; Phillips, John; S...
Journal:
Therapeutic advances in musculoskeletal disease
Issue:
Volume 14(2022)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis. (March 2023)

Authors:
Pena-Burgos, Eva Manuela; Regojo, Rita María; Sáenz de Pipaón, Miguel; Santos-Simarro, Fernando; Ruiz-Sala, Pedro; Pérez, Belén; Esteban-Rodríguez, María Isabel
Journal:
Pediatric and developmental pathology
Issue:
Volume 26:Number 2(2023)
Page Start:
138
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain. (July 2020)

Authors:
Illescas, Tamara; Mansilla, Elena; Herrero, Beatriz; Rodríguez, Roberto; López, Francisco; Aza-Carmona, Miriam; Regojo, Rita María; Santos-Simarro, Fernando; Heath, Karen E; Bartha, José Luis; Antolín, Eugenia
Journal:
European journal of obstetrics, gynecology, and reproductive biology
Issue:
Volume 250(2020)
Page Start:
209
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. (July 2019)

Authors:
Maria del Mar, O'Callaghan; Garcia-Cazorla, Àngels; del Carmen Serrano Munuera, Maria; García, Silvia Cuso; Troncoso, Monica; Fariña, Guillermo; García Peñas, Juan José; Fournier, Belen Gil; León, Soraya Ramiro; Guitart, Miriam; Baena, Neus; de Nanclares, Guiomar Perez; Oci, Intzane Ocio; Gutiérr...
Journal:
European journal of paediatric neurology
Issue:
Volume 23:Number 4(2019:Jul.)
Page Start:
609
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗