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Raz Somech

Showing results (101-110 of 200) with videos related to

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Frontiers in Pediatrics|August 15, 2022
Novel <i>NHEJ1</i> pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoiresShirly Frizinsky, Erez Rechavi, Ortal Barel, et al.
The British Journal of Dermatology|July 15, 2025
Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: A prospective studyEran Galili, Aviv Barzilai, Atar Lev, et al.
Clinical and Experimental Immunology|October 3, 2024
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and AutoimmunityIlia Spivak, Shirly Frizinsky, Amarilla Mandola, et al.
Plos One|November 25, 2010
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patientsAmos J Simon, Atar Lev, Baruch Wolach, et al.
European Journal of Pediatrics|November 5, 2014
Hypoparathyroidism and central diabetes insipidus: in search of the linkOri Eyal, Asaf Oren, Harald Jüppner, et al.
Nutrition (Burbank, Los Angeles County, Calif.)|January 2, 2018
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasiaAlexander Krauthammer, Avishay Lahad, Yifat Sarouk, et al.
European Journal of Pediatrics|February 4, 2022
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experienceOded Shamriz, Amos J Simon, Shirley Frizinsky, et al.
Immunological Investigations|January 29, 2019
Neutrophil Functions in Immunodeficiency Due to DOCK8 DeficiencyAmarilla B Mandola, Jacov Levy, Amit Nahum, et al.
American Journal of Medical Genetics. Part A|September 12, 2015
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlationIlse Meerschaut, Victoria Bordon, Catharina Dhooge, et al.
The Israel Medical Association Journal : IMAJ|October 2, 2013
Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot studyRaz Somech, Atar Lev, Amos J Simon, et al.
Pageof 20

Showing results (101-110 of 200) with videos related to

Sort By:
Pageof 20
Frontiers in Pediatrics|August 15, 2022
Novel <i>NHEJ1</i> pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoiresShirly Frizinsky, Erez Rechavi, Ortal Barel, et al.
The British Journal of Dermatology|July 15, 2025
Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: A prospective studyEran Galili, Aviv Barzilai, Atar Lev, et al.
Clinical and Experimental Immunology|October 3, 2024
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and AutoimmunityIlia Spivak, Shirly Frizinsky, Amarilla Mandola, et al.
Plos One|November 25, 2010
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patientsAmos J Simon, Atar Lev, Baruch Wolach, et al.
European Journal of Pediatrics|November 5, 2014
Hypoparathyroidism and central diabetes insipidus: in search of the linkOri Eyal, Asaf Oren, Harald Jüppner, et al.
Nutrition (Burbank, Los Angeles County, Calif.)|January 2, 2018
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasiaAlexander Krauthammer, Avishay Lahad, Yifat Sarouk, et al.
European Journal of Pediatrics|February 4, 2022
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experienceOded Shamriz, Amos J Simon, Shirley Frizinsky, et al.
Immunological Investigations|January 29, 2019
Neutrophil Functions in Immunodeficiency Due to DOCK8 DeficiencyAmarilla B Mandola, Jacov Levy, Amit Nahum, et al.
American Journal of Medical Genetics. Part A|September 12, 2015
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlationIlse Meerschaut, Victoria Bordon, Catharina Dhooge, et al.
The Israel Medical Association Journal : IMAJ|October 2, 2013
Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot studyRaz Somech, Atar Lev, Amos J Simon, et al.
Pageof 20