Visualitza HVH - Articles científics per autor "Valenzuela, Irene"
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, Charlotte; Lone, Museer; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Valenzuela, Irene; FERNANDEZ ALVAREZ, PAULA (American Society for Clinical Investigation, 2023-05-15) -
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report
Campos-Martorell, Ariadna; Campos Estela, Berta; Hernandez, Sara; Giralt Arnaiz, Marina; Díaz-Troyano, Noelia; Iniesta Serrano, Emilio; Yeste, Diego; Biagetti, Betina; Valenzuela, Irene; Simó Canonge, Rafael (MDPI, 2023-07-04) -
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life
Werfel, Lina; Martens, Helge; Hennies, Imke; Gjerstad, Ann Christin; Fröde, Kerstin; altarescu, gheona; Valenzuela, Irene (Elsevier, 2023-11) -
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
Karimi, Karim; Lauffer, Peter; McConkey, Haley; Caro, Pilar; van der Laan, Liselot; Rooney, Kathleen; Valenzuela, Irene (Elsevier, 2024-03) -
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
van der Laan, Liselot; Rooney, Kathleen; Haghshenas, Sadegheh; Silva, Ananilia; McConkey, Haley; Relator, Raissa; Lasa-Aranzasti, Amaia; Castells Sarret, Neus; Valenzuela, Irene; Trujillano Lidón, Laura; Campos Estela, Berta (MDPI, 2023-09-18) -
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
Carcavilla, Atilano; Cambra, Ana; Santomé, José L.; Seidel, Verónica; Cruz, Jaime; Alonso, Milagros; Valenzuela, Irene (MDPI, 2023-07-29)