Results 261 to 268 of about 38,591 (268)

[Human genetic aspects of inborn ear, nose, and throat diseases].

HNO, 1985
The genetic analysis of malformations enables us to distinguish four groups of different anomalies: 1. Chromosomal disorders (gene and chromosome mutations). 2. Single (monogenic) hereditary anomalies and malformations (gene mutations: point-mutations). 3. Malformations with polygenic multifactorial basis (combination of genetic and exogenous factors).
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Refsum's disease (heredopathia atactica polyneuritiformis)

Human Genetics, 1965
E. Rossi, S. Rosin, R. Richterich
openaire   +3 more sources

The role of individual microRNAs in preeclampsia pathogenesis [PDF]

Journal of Genetic Syndromes & Gene Therapy, 2012
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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
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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
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[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
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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
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Symposium on inborn errors of metabolism: mechanisms in genetic diseases of man.

The American journal of medicine, 2002
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