Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Al-Tamemi S et al.
Journal of Clinical Immunology, 2023
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
Balduit A et al.
Frontiers in Immunology, 2023
The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up.
Khalil SM et al.
Frontiers in Immunology, 2023
Comprehensive Update and Revision of Nomenclature on Complement C6 and C7 Variants.
Massri M et al.
Journal of Immunology (baltimore, Md. : 1950), 2022
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
C7 deficiency and meningococcal infection susceptibility in two spanish families.
Barroso S et al.
Scandinavian Journal of Immunology, 2010
Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease.
Kuijpers TW et al.
Molecular Immunology, 2010
Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.
Rameix-Welti MA et al.
European Journal of Immunology, 2007
Complement component C7 deficiency in two Spanish families.
Barroso S et al.
Immunology, 2004
Complement component C7 deficiency in a Spanish family.
Vázquez-Bermúdez MF et al.
Clinical and Experimental Immunology, 2003
C7 complement deficiency in an Israeli Arab village.
Behar D et al.
American Journal of Medical Genetics, 2002