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M Roifman

Showing results (191-200 of 225) with videos related to

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Advances in Therapy|May 9, 2026
Clinical Evaluation of Pharmacokinetics, Efficacy, and Safety of a 10% Immunoglobulin in Primary Immunodeficiency Disease (CARES10 Study)Chaim M Roifman, Donald McNeil, William Lumry, et al.
Blood|February 6, 2023
Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrierAkira Shiraishi, Vedat Uygun, Nigel Sharfe, et al.
Clinical Genetics|April 11, 2014
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotypeM Roifman, C L M Marcelis, T Paton, et al.
Frontiers in Immunology|June 13, 2017
Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in <i>ZAP70</i> and <i>RNF168</i>Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, et al.
The Journal of Allergy and Clinical Immunology. Global|May 27, 2024
Utilization of next-generation sequencing to define the role of heterozygous <i>FOXN1</i> variants in immunodeficiencyYehonatan Pasternak, Linda Vong, Daniele Merico, et al.
Genes|July 27, 2024
A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, et al.
Nucleic Acids Research|March 4, 2021
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor intronsAnouk M Olthof, Alisa K White, Stephen Mieruszynski, et al.
Blood|July 28, 2009
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiencyAisha V Sauer, Emanuela Mrak, Raisa Jofra Hernandez, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Cellular and Molecular Gastroenterology and Hepatology|July 25, 2015
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaAbdul Elkadri, Cornelia Thoeni, Sophie J Deharvengt, et al.
Pageof 23

Showing results (191-200 of 225) with videos related to

Sort By:
Pageof 23
Advances in Therapy|May 9, 2026
Clinical Evaluation of Pharmacokinetics, Efficacy, and Safety of a 10% Immunoglobulin in Primary Immunodeficiency Disease (CARES10 Study)Chaim M Roifman, Donald McNeil, William Lumry, et al.
Blood|February 6, 2023
Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrierAkira Shiraishi, Vedat Uygun, Nigel Sharfe, et al.
Clinical Genetics|April 11, 2014
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotypeM Roifman, C L M Marcelis, T Paton, et al.
Frontiers in Immunology|June 13, 2017
Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in <i>ZAP70</i> and <i>RNF168</i>Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, et al.
The Journal of Allergy and Clinical Immunology. Global|May 27, 2024
Utilization of next-generation sequencing to define the role of heterozygous <i>FOXN1</i> variants in immunodeficiencyYehonatan Pasternak, Linda Vong, Daniele Merico, et al.
Genes|July 27, 2024
A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, et al.
Nucleic Acids Research|March 4, 2021
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor intronsAnouk M Olthof, Alisa K White, Stephen Mieruszynski, et al.
Blood|July 28, 2009
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiencyAisha V Sauer, Emanuela Mrak, Raisa Jofra Hernandez, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Cellular and Molecular Gastroenterology and Hepatology|July 25, 2015
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaAbdul Elkadri, Cornelia Thoeni, Sophie J Deharvengt, et al.
Pageof 23