Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pablo Daniel Lapunzina Badía"'
Autor:
Hamilton Cassinelli, Miriam Aza-Carmona, Pablo Daniel Lapunzina Badía, Paula Scaglia, Debora Braslavsky, Marina Szlago, Julián Nevado Blanco, Karen E. Heath, Olivia Ruiz, Claudia Arberas, Ignacio Bergadá, Alejandra Carmona, Nora Sanguineti, Maria del Carmen Fernandez, Rodolfo Rey
Publikováno v:
Archivos Argentinos de Pediatria. 118
Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::489d17c795e19c0026587a5573c50ab2
https://doi.org/10.5546/aap.2020.e300
https://doi.org/10.5546/aap.2020.e300
Autor:
Ana Belén Enguita Valls, Pablo Daniel Lapunzina Badía, Ignacio Hernández González, José Julián Rodríguez Reguero, Jair Antonio Tenorio Castaño, Pilar Escribano Subías, Amaya Martínez Meñaca, Julián Palomino Doza, Héctor Bueno Zamora, Paula Tejedor
Publikováno v:
Revista Española de Cardiología (English Edition). 71:86-94
Introduction and objectives Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53f82ce6633a4da776d6a75d7991fab
https://doi.org/10.1016/j.rec.2017.03.034
https://doi.org/10.1016/j.rec.2017.03.034
Autor:
Ignacio Hernández González, Pilar Escribano Subías, Ana Belén Enguita Valls, Paula Tejedor, Pablo Daniel Lapunzina Badía, Jair Antonio Tenorio Castaño, José Julián Rodríguez Reguero, Julián Palomino Doza, Héctor Bueno Zamora, Amaya Martínez Meñaca
Publikováno v:
Revista Española de Cardiología. 71:86-94
Resumen Introduccion y objetivos La enfermedad venooclusiva pulmonar (EVOP) hereditaria se relaciona con mutaciones bialelicas en EIF2AK4 y se ha descrito una mutacion fundadora en pacientes ibericos de etnia gitana con EVOP familiar. Los objetivos s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06397f0d4038dad326ff5e61a085127f
https://doi.org/10.1016/j.recesp.2017.03.030
https://doi.org/10.1016/j.recesp.2017.03.030