Skip to content
    • About the Library
    • Rules and Regulations
    • Library Services
    • Library Hours
  • Library News
    • Digital Repository
    • Google Scholar
    • ResearchGate
    • AJoGPL
    • KURJ
    • AJLS
    • MyLOFT
    • Lexis Plus UK
    • Britannica Academic
    • Research Support Tools
    • Quick Resource Links
  • Login
Advanced
  • P181: Prenatal-onset hypertrop...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Save to List
  • Permanent link
P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies

P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies

Saved in:
Bibliographic Details
Main Authors: Guillaume Jouret, Dominik Brado, Jeroen Breckpot, Davide Vecchio, Mélanie Fradin, Irene Valenzuala, Paula Fernandez, Nuria Martinez, Fabio Sirchia, Alessandro Mussa, Federico Fornari, Jacqueline Aziza, Maria Isis Atallah Gonzalez, Fanny Laffargue, Gueneret Michele, Adela Chirita, Mathilde Nizon, Philippe Khau Van Kien, Francesca Mari, Anna Carrer, Maria Haanpaa, Caroline Rooryck-Thambo, Claire Beneteau, Jean-Baptiste Ichtertz, Marie Bournez, Juliette Dupont, Atilano Carcavilla, Lucia Deiros, Emikarina Rikeros, Maria De Los Angeles Gomez, Maude Grelet, Laetitia Lambert, Lucas Hérissant, Viorica Ciorna, Arthur Sorlin, Rodolphe Dard, Abdelkader Heddar, Jean-Paul Hermand, Didier Menzies
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425001852
Tags: Add Tag
No Tags, Be the first to tag this record!
  • Holdings
  • Description
  • Comments
  • Similar Items
  • Staff View

Internet

http://www.sciencedirect.com/science/article/pii/S2949774425001852

Similar Items

  • Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy
    by: Adil Mirza, et al.
    Published: (2025-07-01)
  • Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies
    by: Federica Tamburrino, et al.
    Published: (2025-01-01)
  • Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies
    by: Seung Jae Lee, et al.
    Published: (2025-04-01)
  • Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
    by: Emma H. Wilcox, et al.
    Published: (2025-01-01)
  • Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign
    by: Louis Domenach, et al.
    Published: (2025-02-01)

Search Options

  • Search History
  • Advanced Search

Find More

  • Browse the Catalog
  • Explore Channels
  • Course Reserves
  • New Items

Need Help?

  • Search Tips
  • Ask a Librarian
  • FAQs