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Blood|July 21, 2009
Loss of Kindlin-3 in LAD-III eliminates LFA-1 but not VLA-4 adhesiveness developed under shear flow conditionsEugenia Manevich-Mendelson, Sara W Feigelson, Ronit Pasvolsky, et al.Journal of Human Genetics|May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric functionNadra Samra, Shir Toubiana, Hilde Yttervik, et al.American Journal of Human Genetics|November 5, 2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineAlina Kurolap, Anja Armbruster, Tova Hershkovitz, et al.Journal of Medical Genetics|March 13, 2019
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotypeTamar Paperna, Nitzan Sharon-Shwartzman, Alina Kurolap, 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.Human Molecular Genetics|March 23, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiencyAnlu Chen, Dov Tiosano, Tulay Guran, et al.Journal of Clinical Immunology|May 13, 2019
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 VariantAlina Kurolap, Orly Eshach Adiv, Liza Konnikova, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, 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.Movement Disorders Clinical Practice|June 5, 2025
High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics ClinicDvir Penn, Yam Amir, Gil Ben David, et al.Pageof 5