Showing 1 - 11 results of 11 for search 'Luis A Pérez‐Jurado', query time: 0.03s
Refine Results
-
1
-
2
-
3
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency by Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado
Published 2014-03-01
Article -
4
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency by Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado
Published 2020-09-01
Article -
5
-
6
-
7
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 by Luis A. Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, SCOURGE Cohort Group, Juan R. González
Published 2024-02-01
Article -
8
Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package by Carlos Ruiz-Arenas, Leire Abarrategui, Carles Hernandez-Ferrer, Xavier Escribà-Montagut, Dolors Pelegrí-Sisó, Patricia Ryser-Welch, Martine Vrijheid, Mariona Bustamante, Regina Grazuleviciene, Johanna Lepeule, Mathew Mathai, Marina Vafeiadi, Sergi Beltran, Luis A Pérez-Jurado, Juan R González
Published 2023-12-01
Article -
9
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability by Andrew Dauber, María T Muñoz‐Calvo, Vicente Barrios, Horacio M Domené, Soren Kloverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Á Martos‐Moreno, Federico Hawkins, Héctor G Jasper, Cheryl A Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A Chowen, Claus Oxvig, Ron G Rosenfeld, Luis A Pérez‐Jurado, Jesús Argente
Published 2016-04-01
Article -
10
Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Published 2021-05-01
Article -
11
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization by Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Published 2023-09-01
Article