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Journal of Genetic Counseling|July 18, 2013
Fabry disease practice guidelines: recommendations of the National Society of Genetic CounselorsDawn A Laney, Robin L Bennett, Virginia Clarke, et al.
The Journal of Pediatrics|August 3, 2015
The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1Carlos E Prada, Robert B Hufnagel, Trent R Hummel, et al.
Frontiers in Immunology|August 25, 2023
Megakaryocyte NLRP3 hyperactivation induces mild anemia and potentiates inflammatory response in miceJoshua H Bourne, Joana Campos, Sophie J Hopkin, et al.
Primary Care|August 28, 2004
Genetic red flags: clues to thinking genetically in primary care practiceAlison J Whelan, Susie Ball, Lyle Best, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndromeDeborah L Cragun, Sharon K Trumpy, Cedric H L Shackleton, et al.
American Journal of Medical Genetics. Part A|May 10, 2021
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelinesMindy Li, Jennifer Glass, Xiaoli Du, et al.
Texas Heart Institute Journal|September 7, 2022
Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry DiseaseAdam W Powell, Samuel G Wittekind, Wayne A Mays, et al.
American Journal of Medical Genetics. Part A|November 28, 2020
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental surveyKatherine Abell, Robert J Hopkin, Patricia L Bender, et al.
American Journal of Medical Genetics. Part A|September 29, 2023
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathiesCarolyn R Serbinski, April Vanderwal, Sarah E Chadwell, et al.
Pediatric Research|July 4, 2008
Characterization of Fabry disease in 352 pediatric patients in the Fabry RegistryRobert J Hopkin, John Bissler, Maryam Banikazemi, et al.
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