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Frontiers in Cell and Developmental Biology|July 5, 2021
Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the TelencephalonMary Jo Talley, Diana Nardini, Nisha Shabbir, et al.
Molecular Genetics & Genomic Medicine|November 28, 2023
Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalitiesSyed M Ali, Dua A AlMasri, Carlos E Prada, et al.
Molecular Genetics and Metabolism|January 24, 2018
Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patientsSuraj D Serai, Anjani P Naidu, T Andrew Burrow, et al.
JACC. Case Reports|April 18, 2025
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: Genetics, Autoinflammation, and Recurrent PericarditisAshraf Samhan, Carolyn A Rasmussen, Carlos E Prada, et al.
American Journal of Medical Genetics. Part A|February 15, 2019
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathyDeema Aljeaid, Ana Isabel Sanchez, Emily Wakefield, et al.
The Journal of Pediatrics|March 4, 2026
Central Precocious Puberty and Optic Pathway Glioma in Children with Neurofibromatosis 1: Associations with Tumor Location, Vision, and TreatmentJulia Katz, Ethan Hillis, Jenny P Garzon, et al.
American Journal of Medical Genetics. Part A|December 29, 2021
Craniosynostosis is a feature of Costello syndromeK Nicole Weaver, Marguerite Care, Emily Wakefield, et al.
Blood|June 24, 2005
ZAP-70 is a novel conditional heat shock protein 90 (Hsp90) client: inhibition of Hsp90 leads to ZAP-70 degradation, apoptosis, and impaired signaling in chronic lymphocytic leukemiaJanuario E Castro, Carlos E Prada, Olivier Loria, et al.
American Journal of Medical Genetics. Part A|August 29, 2025
Sacroiliac Joint Involvement: An Underreported Complication of NF1Jenny P Garzon, Eva Dombi, Jonathan Samet, et al.
Texas Heart Institute Journal|December 26, 2017
Widespread Vasculopathy in a Patient with Morquio A SyndromeAdam W Powell, Michael D Taylor, T Andrew Burrow, et al.
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