Showing 21 - 22 results of 22 for search '"Intron"', query time: 0.02s Refine Results
  1. 21
    A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments

    A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments by Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo

    Published 2024-12-01
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  2. 22
    Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks

    Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Carla Gianelli, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Luis Allende Martínez, Pilar Nozal Aranda, Pilar Nozal Aranda, Pilar Nozal Aranda, Carmen Cámara Hijón, Carmen Cámara Hijón, Carmen Cámara Hijón, Eduardo López Granados, Eduardo López Granados, Eduardo López Granados, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, María Bravo García-Morato, María Bravo García-Morato, María Bravo García-Morato

    Published 2025-01-01
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