Fe Amalia Garcia-Santiago - Hospital Universitario La Paz

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论文共 22 篇作者统计合作学者相似作者

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Non-immune Hydrops Fetalis is Associated with Bi-Allelic Pathogenic Variants in the MYB Binding Protein 1a (MYBBP1A) Gene

Jair Tenorio-Castano,Elena Mansilla Aparicio,Fe Amalia Garcia Santiago, Cherise M. Klotz,Rita Maria Regojo, Estefania Anguita, Erin Ryan, Jane Juusola, Beatriz Herrero,Pedro Arias,Alejandro Parra,Patricia Pascual,Natalia Gallego,Mario Cazalla, Roberto Rodriguez-Gonzalez,Eugenia Antolin,Julian Nevado, Victor L. Ruiz-Perez,Pablo Lapunzina

CLINICAL GENETICSno. 6 (2024): 713-720

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Mortality in Patients with 22q11.2 Rearrangements

Melisa Cilio Arroyuelo,Jair Tenorio-Castano, Luis Fernandez Garcia-Moya,Alejandro Parra,Mario Cazalla,Natalia Gallego, Lucia Miranda,Maria angeles Mori, Luis Garcia-Gueretta,Carlos Labrandero,Elena Mansilla, Emi Rikeros,Fe Garcia-Santiago,Isabel Vallcorba, Pedro Arias,Cristina Silvan,Lucia Deiros Bronte, Julian Nevado,Pablo Lapunzina

GENESno. 9 (2024)

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A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

Beatriz Villafuerte,Carlos Carrasco-Lopez, Amanda Herranz,Lucia Garzon,Rogelio Simon,Daniel Natera-de-Benito,Pouya Alikhani,Jair Tenorio,Fe Garcia-Santiago,Mario Solis,Angela del-Pozo,Pablo Lapunzina,Juan Dario Ortigoza-Escobar,Pilar Santisteban,Jose C. Moreno

Thyroid (2024)

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Genetic complexity of congenital hypopituitarism: oligogenic inheritance may explain the variable expression and incomplete penetrance of deleterious GLI2 variants in congenital hypopituitarism

Francisco Javier Rodriguez-Contreras, Purificacion Ros Perez,Fe Amalia Garcia Santiago,Elena Vallespin,Angela Del Pozo Mate,Mario Solis,Isabel Gonzalez-Casado,Karen E. Heath,Angel Campos-Barros

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 375-376

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Variability in Wolf-Hirschhorn syndrome: two cohorts side by side

Julian Nevado,Raquel Blanco-Lago,Cristina Bel-Fenellos,Maria Angeles Mori,Pilar Barruz-Galian,Ignacio Malaga,Harry Pachajoa, Franco Cammarata-Scalissi,Elena Mansilla,Fe Amalia Garcia Santiago,Jair Tenorio,Isabel Vallcorba,Pablo Lapunzina

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 465-466

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Full penetrance of craniofacial midline traits in a large multigenerational family with a nonsense GLI2 variant and highly variable phenotypic expression

Francisco J. Rodriguez-Contreras,Purificacion Ros-Perez,Fe A. Garcia Santiago,Elena Vallespin,Angela Del Pozo,Mario Solis-Lopez,Angel Campos-Barros

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes

Ramon Peces,Carlos Peces,Rocio Mena,Emilio Cuesta,Fe Amalia Garcia-Santiago,Marta Ossorio,Sara Afonso,Pablo Lapunzina,Julian Nevado

Genes（2022）

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A case of ESCO2 spectrum disorder without limb reduction defects

Sofia M. Siccha-Arancibia,Maria Palomares-Bralo,Marta Pacio-Miguez, Gloria Lopez-Sobrino,Carmen Rodriguez-Jimenez,Angela del Pozo,Elena Mansilla,Fe Garcia-Santiago,Sixto Garcia-Minaur,Fernando Santos-Simarro

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Three foetuses with Cornelia de Lange diagnosis: prenatal findings and genetic diagnosis

Fe Amalia Garcia Santiago,Elena Mansilla,Eugenia Antolin,Fernando Santos Simarro,Roberto Rodriguez,Julian Nevado,Maria Palomares-Bralo,Karen Heath,Rita Maria Regojo,Carmen Rodriguez-Jimenez,Isabel Vallcorba,Angela del Pozo,Pablo Lapunzina

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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