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Tamar Paperna

Showing results (31-40 of 47) with videos related to

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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.
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.
Pacing and Clinical Electrophysiology : PACE|February 20, 2024
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardiaMiry Blich, Yaniv Zohar, Victoria Cohen-Kaplan, et al.
Journal of Medical Genetics|June 8, 2018
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotypeAlina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, 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.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|February 5, 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variantsGili Reznick Levi, Yael Goldberg, Hanna Segev, 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.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
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.
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.
Pacing and Clinical Electrophysiology : PACE|February 20, 2024
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardiaMiry Blich, Yaniv Zohar, Victoria Cohen-Kaplan, et al.
Journal of Medical Genetics|June 8, 2018
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotypeAlina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, 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.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|February 5, 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variantsGili Reznick Levi, Yael Goldberg, Hanna Segev, 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.
Pageof 5