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American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
European Journal of Human Genetics : EJHG|August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsJulia Volpi, Xiaonan Zhao, Nichole Owen, et al.
American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|December 16, 2017
Autologous Transplantation in Follicular Lymphoma with Early Therapy Failure: A National LymphoCare Study and Center for International Blood and Marrow Transplant Research AnalysisCarla Casulo, Jonathan W Friedberg, Kwang W Ahn, et al.
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