Results 121 to 130 of about 22,161 (138)

Genetic Mosaicism as a Cause of Inborn Errors of Immunity

Journal of Clinical Immunology, 2021
Megan Cooper, Cooper Megan A
exaly  

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Frontiers in Immunology, 2023
Dongju Won, Jong Rak Choi, Ji-Man Kang
exaly  

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity

Clinical and Experimental Immunology, 2021
Adiratna Mat Ripen, Hamidah Ghani, Rikeish R Muralitharan   +2 more
exaly  

Inborn Errors of Metabolism in Dogs: Historical, Metabolic, Genetic, and Clinical Aspects

Topics in Companion Animal Medicine, 2022
Jair Engracia Filho, Enio Moura, Claudia Pimpao   +2 more
exaly  

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Journal of Genetic Counseling, 2017
Susan A Berry
exaly  

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

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

[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

Symposium on inborn errors of metabolism: mechanisms in genetic diseases of man.

The American journal of medicine, 2002
openaire   +1 more source