Browsing by Author "Tizzano Ferrari, Eduardo Fidel"
Now showing items 1-10 of 10
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A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia Campos, Cristina; Valenzuela Palafoll, Ma Irene; Ros-Pardo, David; Arnedo, Maria; Castells Sarret, Neus; Plaja Rustein, Alberto; Tenés Felipe, Anna; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel; Latorre-Pellicer, Ana; Gil Salvador, Marta; Trujillano Lidón, Laura (MDPI, 2022-08-08) -
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco Perez, Laura; Costa Roger, Mar; Leno Colorado, Jorge; Bernal, Sara; Alias, Laura; Codina Solà, Marta; Martínez Cruz, Desirée; Sotoca Fernández, Javier; Juntas Morales, Raul; Costa Comellas, Laura; Munell Casadesus, Francina; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2022-07-27) -
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies
Bernal, Sara; Pelaez, Irene; Alias, Laura; Baena, Manel; De Pablo-Moreno, Juan A.; Serrano, Luis J.; Tizzano Ferrari, Eduardo Fidel (MDPI, 2021-09) -
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)
Martín Nalda, Andrea; Cueto Gonzalez, Anna Maria; Argudo-Ramírez, Ana; Colobran Oriol, Roger; Plaja Rustein, Alberto; Castells Sarret, Neus; Rivière, Jacques; Tizzano Ferrari, Eduardo Fidel; Soler Palacín, Pere; Marin Soria, José Luis; Martínez Gallo, Mónica (Wiley Online Library, 2019-10-30) -
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Estañ, María Cristina; Fernández-Núñez, Elisa; Zaki, Maha S; Esteban, María Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Tizzano Ferrari, Eduardo Fidel (Nature Research, 2019-02-15) -
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
Milligan, John; Blasco Perez, Laura; Costa Roger, Mar; Codina Solà, Marta; Tizzano Ferrari, Eduardo Fidel (MDPI, 2022-09-15) -
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Tenorio-Castaño, Jair; Morte, Beatriz; Nevado, Julián; Martinez-Glez, Víctor; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Valenzuela Palafoll, Ma Irene; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2021-05) -
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
Costa Roger, Mar; Blasco Perez, Laura; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2021-08) -
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
Boemer, François; Caberg, Jean‑Hubert; Beckers, Pablo; Dideberg, Vinciane; di Fiore, Samantha; Bours, Vincent; Blasco Perez, Laura; Tizzano Ferrari, Eduardo Fidel (Nature Research, 2021-10-07) -
Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis
Calucho Prim, Maite; Gartner Tizzano, Silvia; Barranco Bartolomé, Paula; Fernández Álvarez, Paula; García Pérez, Raquel; Tizzano Ferrari, Eduardo Fidel (Nature Research, 2021-07-30)