Results 251 to 260 of about 618,834 (263)

Genetic susceptibility to EBV infection: insights from inborn errors of immunity

Human Genetics, 2020
S. Tangye
semanticscholar   +1 more source

Maternal genetic diseases: potential concerns for mother and baby

Human Genetics, 2019
J. Stone, D. Reed
semanticscholar   +1 more source

Refsum's disease (heredopathia atactica polyneuritiformis)

Human Genetics, 1965
R, Richterich, S, Rosin, E, Rossi
openaire   +2 more sources

Gene therapy for inborn errors of immunity: past, present and future

Nature reviews. Immunology, 2022
A. Fischer
semanticscholar   +1 more source

Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases)

Current Allergy and Asthma Reports, 2018
Annely M. Richardson, A. Moyer, L. Hasadsri, R. Abraham   +3 more
semanticscholar   +1 more source

Book Review Inborn Metabolic Diseases: Diagnosis and Treatment Third edition. Edited by J. Fernandes, J.-M. Saudubray, and G. Van den Berghe. 467 pp., illustrated. New York, Springer-Verlag, 2000. $119. 3-540-65626-X Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology By Enid Gilbert-Barness and Lewis A. Barness. 930 pp. in two volumes, illustrated. Natick, Mass., Eaton, 2000. $279. 1-881299-11-2

New England Journal of Medicine, 2001
openaire   +1 more source

The Complexity of Being A20: From Biological Functions to Genetic Associations

Journal of Clinical Immunology
Urekha Karri, Magdalena Harasimowicz, Manuel Carpio Tumba, Daniella M. Schwartz   +3 more
semanticscholar   +1 more source

[Early diagnosis of inborn metabolic diseases--genetic metabolic disorders which may cause mental deficiency. Studies in North Rhine-Westfalia].

Munchener medizinische Wochenschrift (1950), 1972
F, Menne, I, Hass
openaire   +1 more source

Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 5, Status: Authorised

Case Medical Research, 2019
openaire   +1 more source

POS1287 NEXT GENERATION SEQUENCING ANALYSIS IDENTIFIES HIGH FREQUENCY OF GENETIC VARIANTS POTENTIALLY LINKED TO INBORN ERRORS OF IMMUNITY IN COMMON VARIABLE IMMUNODEFICIENCY PATIENTS WITH AUTOIMMUNE AND INFLAMMATORY RHEUMATIC DISEASES

Annals of the Rheumatic Diseases
P. Semeraro, M. Frassi, S.C. Giliani, F. Franceschini, P. Airo   +4 more
openaire   +1 more source