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Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.
Pacing Clin Electrophysiol. 2024 Apr;47(4):503-510. doi: 10.1111/pace.14950. Epub 2024 Feb 20.
Pacing Clin Electrophysiol. 2024.
PMID: 38375917
Variable clinical expression of a novel FLNC truncating variant in a large family.
Tomer O, Horowitz-Cederboim S, Rivkin D, Meiner V, Gollob MH, Zwas DR, Durst R, Shauer A.
Tomer O, et al. Among authors: horowitz cederboim s.
Int J Cardiol. 2024 Apr 15;401:131849. doi: 10.1016/j.ijcard.2024.131849. Epub 2024 Feb 13.
Int J Cardiol. 2024.
PMID: 38360096
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Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation.
Shauer A, Horowitz-Cederboim S, Mor-Shaked H, Durst R, Zwas DR, Belhassen B.
Shauer A, et al. Among authors: horowitz cederboim s.
Circ Genom Precis Med. 2024 Feb;17(1):e004163. doi: 10.1161/CIRCGEN.123.004163. Epub 2024 Jan 23.
Circ Genom Precis Med. 2024.
PMID: 38258601
No abstract available.
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Acute Myocarditis Associated With Desmosomal Gene Variants.
Ammirati E, Raimondi F, Piriou N, Sardo Infirri L, Mohiddin SA, Mazzanti A, Shenoy C, Cavallari UA, Imazio M, Aquaro GD, Olivotto I, Pedrotti P, Sekhri N, Van de Heyning CM, Broeckx G, Peretto G, Guttmann O, Dellegrottaglie S, Scatteia A, Gentile P, Merlo M, Goldberg RI, Reyentovich A, Sciamanna C, Klaassen S, Poller W, Trankle CR, Abbate A, Keren A, Horowitz-Cederboim S, Cadrin-Tourigny J, Tadros R, Annoni GA, Bonoldi E, Toquet C, Marteau L, Probst V, Trochu JN, Kissopoulou A, Grosu A, Kukavica D, Trancuccio A, Gil C, Tini G, Pedrazzini M, Torchio M, Sinagra G, Gimeno JR, Bernasconi D, Valsecchi MG, Klingel K, Adler ED, Camici PG, Cooper LT Jr.
Ammirati E, et al. Among authors: horowitz cederboim s.
JACC Heart Fail. 2022 Oct;10(10):714-727. doi: 10.1016/j.jchf.2022.06.013. Epub 2022 Sep 7.
JACC Heart Fail. 2022.
PMID: 36175056
Free article.
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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.
Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O.
Harel T, et al. Among authors: horowitz cederboim s.
Eur J Hum Genet. 2019 Aug;27(8):1315-1319. doi: 10.1038/s41431-019-0380-y. Epub 2019 Apr 11.
Eur J Hum Genet. 2019.
PMID: 30976112
Free PMC article.
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