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Journal of Pediatric Gastroenterology and Nutrition|November 13, 2018
Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 DeficiencyAlina Kurolap, Orly Eshach Adiv, Tova Hershkovitz, 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.Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.Clinical Dysmorphology|September 14, 2020
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1Amir Peleg, Alina Kurolap, Lena Sagi-Dain, et al.Human Genomics|March 28, 2023
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panelsYaron Einhorn, Moshe Einhorn, Alina Kurolap, et al.European Journal of Medical Genetics|March 30, 2019
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze populationKarin Weiss, Nina Ekhilevitch, Lior Cohen, et al.Prenatal Diagnosis|December 2, 2025
Diagnostic Value of Exome Sequencing in Isolated PolyhydramniosVered Offen Glassner, Adi Botvinik, Adi Mory, et al.American Journal of Medical Genetics. Part A|June 9, 2016
Is one diagnosis the whole story? patients with double diagnosesAlina Kurolap, Naama Orenstein, Inbal Kedar, et al.Journal of Medical Genetics|June 8, 2018
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotypeAlina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 2, 2023
Utility of genetic testing in children with leukodystrophyAyelet Zerem, Stephanie Libzon, Liat Ben Sira, et al.Pageof 5