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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations Dollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana 分享 收藏
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Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension Vera-Zambrano, Alba; Lago-Docampo, Mauro; Gallego, Natalia; Felipe Franco-Gonzalez, Juan; Morales-Cano, Daniel; Cruz-Utrilla, Alejandro; Villegas-Esguevillas, Marta; Fernandez-Malave, Edgar; Escribano-Subias, Pilar; Antonio Tenorio-Castano, Jair; Perez-Vizcaino, Francisco; Valverde, Diana; Gonzalez, Teresa; Cogolludo, Angel 分享 收藏
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Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension Cruz-Utrilla, Alejandro; Gallego-Zazo, Natalia; Perez-Olivares, Carmen; Hernandez-Gonzalez, Ignacio; Bedate, Pedro; Menaca, Amaya Martinez; Meseguer, Manuel Lopez; Lapunzina, Pablo; Nunez, Marta Perez; Parra, Nuria Ochoa; Valverde, Diana; Tenorio-Castano, Jair Antonio; Escribano-Subias, Pilar 分享 收藏
First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease 导致肺部疾病的TBX4综合征功能获得性突变的首次基因型-表型研究 Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M.; Montani, David; Eyries, Melanie; Humbert, Marc; Welch, Carrie L.; Chung, Wendy K.; Berger, Rolf M. F.; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subias, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara M. A.; Kerstjens-Frederikse, Wilhelmina; Kiely, David G.; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J.; Schotte, Gwen; Tenorio-Castano, Jair; Thompson, A. A. Roger; Wharton, John; Wort, Stephen J.; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M.; Martin, Jennifer M.; Li, Wei; Swift, Andrew J.; Upton, Paul D.; Morrell, Nicholas W.; Graf, Stefan; Valverde, Diana 分享 收藏
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Limited genomic reconstruction of SARS-CoV-2 transmission history within local epidemiological clusters Gallego-Garcia, Pilar; Varela, Nair; Estevez-Gomez, Nuria; De Chiara, Loretta; Fernandez-Silva, Iria; Valverde, Diana; Sapoval, Nicolae; Treangen, Todd J.; Regueiro, Benito; Julio Cabrera-Alvargonzalez, Jorge; del Campo, Victor; Perez, Sonia; Posada, David 分享 收藏
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease Hernandez-Gonzalez, Ignacio; Tenorio-Castano, Jair; Ochoa-Parra, Nuria; Gallego, Natalia; Perez-Olivares, Carmen; Lago-Docampo, Mauro; Palomino Doza, Julian; Valverde, Diana; Lapunzina, Pablo; Escribano-Subias, Pilar 分享 收藏
Alterations in Respiratory Function Test Three Months after Hospitalisation for COVID-19 Pneumonia: Value of Determining Nitric Oxide Diffusion 新型冠状病毒肺炎肺炎住院三个月后呼吸功能测试的变化: 确定一氧化氮扩散的价值 Nunez-Fernandez, Marta; Ramos-Hernandez, Cristina; Garcia-Rio, Francisco; Torres-Duran, Maria; Nodar-Germinas, Andres; Tilve-Gomez, Amara; Rodriguez-Fernandez, Paula; Valverde-Perez, Diana; Ruano-Ravina, Alberto; Fernandez-Villar, Alberto 分享 收藏
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Consensus clinical management guidelines for Alstrom syndrome Alstrom综合征的共识临床管理指南 Tahani, Natascia; Maffei, Pietro; Dollfus, Helene; Paisey, Richard; Valverde, Diana; Milan, Gabriella; Han, Joan C.; Favaretto, Francesca; Madathil, Shyam C.; Dawson, Charlotte; Armstrong, Matthew J.; Warfield, Adrian T.; Duzenli, Selma; Francomano, Clair A.; Gunay-Aygun, Meral; Dassie, Francesca; Marion, Vincent; Valenti, Marina; Leeson-Beevers, Kerry; Chivers, Ann; Steeds, Richard; Barrett, Timothy; Geberhiwot, Tarekegn 分享 收藏
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients Lago-Docampo, Mauro; Tenorio, Jair; Hernandez-Gonzalez, Ignacio; Perez-Olivares, Carmen; Escribano-Subias, Pilar; Pousada, Guillermo; Baloira, Adolfo; Arenas, Miguel; Lapunzina, Pablo; Valverde, Diana 分享 收藏
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