Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julia del Rincón"'
Autor:
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli, Lidia Larizza, María Arnedo, Ariadna Ayerza-Casas, Julia Del Rincón, Laura Trujillano, Beatriz Morte, Luis A. Pérez-Jurado, Pablo Lapunzina, Elsa Leitão, Jasmin Beygo, Christina Lich, Fabian Kilpert, Sabine Kaya, Christel Depienne, Frank J. Kaiser, Feliciano J. Ramos, Beatriz Puisac, Juan Pié
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Cornelia de Lange syndrome (CdLS, OMIM #122470, #300590, #300882, #610759, and #614701) is a rare congenital disorder that affects the development of multiple organs and is characterized by physical abnormalities and cognitive and behavioral disabili
Externí odkaz:
https://doaj.org/article/137ab398102e4248957d0e912630ea0c
Autor:
Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos
Publikováno v:
Anales de Pediatría (English Edition), Vol 100, Iss 5, Pp 352-362 (2024)
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postna
Externí odkaz:
https://doaj.org/article/b32335af8e744f76992bc585fbcb8e14
Autor:
Pié, Ana Latorre-Pellicer, Laura Trujillano, Julia del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J. Ramos, Ariadna Ayerza-Casas, Juan
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 12; Pages: 4052
Background: PACS1 neurodevelopmental disorder (PACS1-NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::f9148fbad9544ed20f1da60b153030a2