Examinant per Autoria "Lapunzina, Pablo Daniel"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A six-attribute classification of genetic mosaicism(Nature Research, 2020) Martínez-Glez, Víctor; Tenorio Castaño, Jair; Nevado, Julián; Gordo, Gema; Rodríguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez Jurado, Luis Alberto; Ruiz Pérez, Víctor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo Daniel
Ítem Accés Obert A view on clinical genetics and genomics in Spain: of challenges and opportunities.(Willey, 2016) Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo Daniel; Gozalo-Salellas, Ignasi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968-
Ítem Accés Obert CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative(Wiley, 2022) Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel de; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat i Fonts, Cristina; Pérez Jurado, Luis Alberto; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo Daniel
Ítem Accés Obert Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis(Springer, 2012) Armengol i Dulcet, Lluís; Nevado, Julián; Serra Juhé, Clara, 1984-; Mediano, Carmen; García Santiago, Fe Amalia; García Aragonés, Manel; Villa Marcos, Olaya; Mansilla, Elena; Preciado, Cristina; Fernández, Luis; Mori, María Ángeles; García Pérez, Lidia; Lapunzina, Pablo Daniel; Pérez Jurado, Luis Alberto
Ítem Accés Obert Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2(Nature Research, 2024) Pérez Jurado, Luis Alberto; Cáceres, Alejandro; Balagué-Dobón, Laura; Esko, Tõnu; López de Heredia, Miguel de; Quintela Garcia, Ines; Cruz, Raquel; Lapunzina, Pablo Daniel; Carracedo, Ángel; SCOURGE Cohort Group; González, Juan Ramón
Ítem Accés Obert Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review(MDPI, 2021) Tenorio Castaño, Jair; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel
Ítem Accés Obert Variability in Phelan-McDermid syndrome in a cohort of 210 individuals(Frontiers, 2022) Nevado, Julián; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel; Spanish PMS Working Group