Visualitza per autor "Cuscó Martín, Ivon"
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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) -
Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings
Rudilla Salvador, Francesc; Franco Jarava, Clara; García Prat, Marina; Martín Nalda, Andrea; Rivière, Jacques; Aguiló Cucurull, Aina; Vidal Pérez, Francisco; Cuscó Martín, Ivon; Serra Juhe, Clara; Baz Redón, Noelia; Fernández Cancio, Mónica; García-Patos Briones, Vicente; Pujol-Borrell, Ricardo; Soler Palacín, Pere; Colobran Oriol, Roger; Martínez Gallo, Mónica (Frontiers Media, 2019-10-01) -
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)