Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Journal of Genetics|May 19, 2025
Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndromeUri Hamiel, Alina Kurolap, Chofit Chai Gadot, et al.
Molecular Genetics and Metabolism|September 30, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescueAlina Kurolap, Dalit Barel, Nava Shaul Lotan, et al.
The New England Journal of Medicine|November 1, 2023
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and FibrosisHagit Baris Feldman, Chofit Chai Gadot, David Zahler, et al.
Journal of Molecular Neuroscience : MN|June 8, 2022
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison ExonPenina Ponger, Alina Kurolap, Israela Lerer, et al.
Journal of Medical Genetics|April 9, 2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
Annals of Internal Medicine|December 23, 2024
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail SyndromeAlina Kurolap, Chofit Chai Gadot, Orly Eshach Adiv, et al.
Pageof 1