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Nature Reviews. Endocrinology|January 30, 2018
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statementFrédéric Brioude, Jennifer M Kalish, Alessandro Mussa, et al.
JACC. Basic to Translational Science|March 25, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic CardiomyopathyCordula M Wolf, Martin Zenker, Olga Boleti, et al.
Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.
American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Chest|February 6, 2015
Lung Ultrasound-Implemented Diagnosis of Acute Decompensated Heart Failure in the ED: A SIMEU Multicenter StudyEmanuele Pivetta, Alberto Goffi, Enrico Lupia, et al.
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