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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 repertoires
Shirly 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 study
Eran Galili, Aviv Barzilai, Atar Lev, et al.
Clinical and Experimental Immunology
|
October 3, 2024
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity
Ilia 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 patients
Amos J Simon, Atar Lev, Baruch Wolach, et al.
European Journal of Pediatrics
|
November 5, 2014
Hypoparathyroidism and central diabetes insipidus: in search of the link
Ori 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 telangiectasia
Alexander 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 experience
Oded Shamriz, Amos J Simon, Shirley Frizinsky, et al.
Immunological Investigations
|
January 29, 2019
Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency
Amarilla 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 correlation
Ilse 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 study
Raz Somech, Atar Lev, Amos J Simon, et al.
Page
of 20
Search research articles
Search
Showing results (101-110 of 200) with videos related to
Sort By:
Page
of 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 repertoires
Shirly 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 study
Eran Galili, Aviv Barzilai, Atar Lev, et al.
Clinical and Experimental Immunology
|
October 3, 2024
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity
Ilia 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 patients
Amos J Simon, Atar Lev, Baruch Wolach, et al.
European Journal of Pediatrics
|
November 5, 2014
Hypoparathyroidism and central diabetes insipidus: in search of the link
Ori 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 telangiectasia
Alexander 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 experience
Oded Shamriz, Amos J Simon, Shirley Frizinsky, et al.
Immunological Investigations
|
January 29, 2019
Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency
Amarilla 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 correlation
Ilse 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 study
Raz Somech, Atar Lev, Amos J Simon, et al.
Page
of 20