Associated Papers
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E et al.
Blood Cells, Molecules & Diseases, 2012
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
Uzel G et al.
Blood, 2008
Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.
Fathallah DM et al.
Journal of Biomedicine & Biotechnology, 2001
Molecular characterization of leukocyte adhesion deficiency in six patients.
Wright AH et al.
European Journal of Immunology, 1995
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