Eduardo Tizzano
15PUBLICATIONS
80CO-AUTHORS
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Publications (15)
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|Oct 10, 2024
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Neftalí Vazquez, Chanjae Lee, Irene Valenzuela
|Sep 16, 2024
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.Daniel Greene, Koenraad De Wispelaere, Jon Lees
|Jul 22, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin
|Jul 03, 2024
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona
|Jan 05, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.Anna Abulí, Mar Costa-Roger, Marta Codina-Solà
|Nov 29, 2022
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.Estela Carrasco, Adrià López-Fernández, Marta Codina-Sola
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Frequent Collaborators
5 joint publications
Irene Valenzuena
4 joint publications
Marta Codina-Solà
3 joint publications
Paula Fernández-Álvarez
3 joint publications
Ivon Cuscó
2 joint publications
Andres Lozano-Arango
2 joint publications
Claudia Castiglioni
2 joint publications
André M S Silva
2 joint publications
Mar Costa-Roger
2 joint publications
Jordi Leno-Colorado
2 joint publications
Laura Blasco-Pérez
