| Acute myocarditis associated with desmosomal gene variants E Ammirati, F Raimondi, N Piriou, L Sardo Infirri, SA Mohiddin, A Mazzanti, ... Heart Failure 10 (10), 714-727, 2022 | 61 | 2022 |
| Transaldolase deficiency: a new case expands the phenotypic spectrum E Banne, V Meiner, A Shaag, R Katz-Brull, A Gamliel, S Korman, ... JIMD Reports, Volume 26, 31-36, 2016 | 18 | 2016 |
| Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay T Harel, E Levy-Lahad, M Daana, H Mechoulam, S Horowitz-Cederboim, ... European Journal of Human Genetics 27 (8), 1315-1319, 2019 | 9 | 2019 |
| Variable clinical expression of a novel FLNC truncating variant in a large family O Tomer, S Horowitz-Cederboim, D Rivkin, V Meiner, MH Gollob, ... International Journal of Cardiology 401, 131849, 2024 | | 2024 |
| Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation A Shauer, S Horowitz-Cederboim, H Mor-Shaked, R Durst, DR Zwas, ... Circulation: Genomic and Precision Medicine 17 (1), e004163, 2024 | | 2024 |
Orly ElpelegHadassah Hebrew University Medical Center在 hadassah.org.il 的电子邮件经过验证
