Results 301 to 310 of about 4,846,243 (320)

Interplay Between Epigenetic and Genetic Alterations in Inborn Errors of Immunity

Trends in Immunology, 2023
Esteban Ballestar, Javier Rodríguez-Ubreva, Lisa R Forbes Satter   +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

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

No Risk of Genetic Disease in Childhood Cancer Survivors' Offspring Found

Ca-A Cancer Journal for Clinicians, 2012
Mary Kay Barton
exaly  

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
Semeraro, P., Frassi, M., Giliani, S. C., Franceschini, F., Airo, P.   +4 more
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

[Carriers of pathogenic variants in inborn errors of immunity: genetic associations with disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics
J, Zhao, X Q, Wei, X D, Zhao, Y F, An
openaire   +1 more source

Scalable Generation and Functional Classification of Genetic Variants in Inborn Errors of Immunity to Accelerate Clinical Diagnosis and Treatment

Cell
Benjamin Izar, Chris J Frangieh, Zachary H Walsh   +2 more
exaly