Browsing by Author "Cebola, Inês"

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  • Vas, Matías G. de; Boulet, Fanny; Joshi, Shweta S.; Garstang, Myles G.; Khan, Tahir N.; Atla, Goutham; Parry, David; Moore, David; Cebola, Inês; Zhang, Shuchen; Cui, Wei, 1970-; Lampe, Anne K.; Lam, Wayne W.; Genomics England Research Consortium; Ferrer, Jorge; Pradeepa, Madapura M.; Atanur, Santosh S. (Life Science Alliance, 2023)
    The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory ...
  • Walters, Rachel; Vasilaki, Eleni; Arman, Jurjan; Chen, Chien-Nien; Wu, Yukyee; Liang, Olin D.; Ashek, Ali; Dubois, Olivier; Zhao, Lin; Sabrin, Farah; Cebola, Inês; Ferrer, Jorge; Morrell, Nicholas W.; Klinger, James R.; Wilkins, Martin R.; Zhao, Lan; Rhodes, Christopher J. (Wolters Kluwer (LWW), 2023)
    Background: Pulmonary arterial hypertension (PAH) is a rare disease characterized by remodeling of the pulmonary arteries, increased vascular resistance, and right-sided heart failure. Genome-wide association studies of ...

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