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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng, Dominique P Germain, Maryam Banikazemi, et al.
Korean Journal of Radiology|March 10, 2009
Prenatal MRI findings of fetuses with congenital high airway obstruction sequenceCarolina V A Guimaraes, Leann E Linam, Beth M Kline-Fath, et al.
Annals of Neurology|November 25, 2004
Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndromeYang Tang, Mark B Schapiro, David N Franz, et al.
Clinical Epigenetics|April 10, 2019
Novel parent-of-origin-specific differentially methylated loci on chromosome 16Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, et al.
Clinical Kidney Journal|January 4, 2021
Fabry disease and COVID-19: international expert recommendations for management based on real-world experienceDawn A Laney, Dominique P Germain, João Paulo Oliveira, et al.
American Journal of Medical Genetics. Part A|October 8, 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsElizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 10, 2026
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric SurveillanceMariz Ebuen, Vasudevan Krishnan, Kathleen Irby, et al.
Genetics in Medicine Open|December 13, 2024
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet StudyD A Laney, M F Houde, A L Foley, et al.
Frontiers in Medicine|September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi studyDaniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Molecular Genetics and Metabolism|October 4, 2012
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfaAns T van der Ploeg, Richard Barohn, Lisa Carlson, et al.
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