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European journal of medical genetics, ISSN 1769-7212, 2005
Journal
Gene function & disease, ISSN 1438-826X, 2000
Journal
Journal
2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | Disorders of the Nervous System
Book
Seminars in immunology, ISSN 1044-5323, 12/2014, Volume 26, Issue 6, pp. 454 - 470
Journal Article
2001, 8th ed., ISBN 9780071163361, 4 v. (xlvii, 6338, I-140 p.)
Book
2016, ISBN 9780807074589, 234
.... DNA testing is promising in treating serious disease, but Beijing Genomics, one of the world's largest genomics centers, is quietly developing gene tests to predict intelligence... 
Genetic Diseases, Inborn | Genetic Engineering | Genetic Testing | Genetic disorders | Genetic screening
Book
American journal of respiratory cell and molecular biology, ISSN 1535-4989, 08/2013, Volume 49, Issue 2, pp. 167 - 179
Journal Article
2006, ISBN 1588296814, xi, 1076
Incorporating clinical photographs of patients, this work illustrates selected genetic disorders and congenital malformations. It provides an outline of each... 
Genetic Diseases, Inborn | Genetic disorders | Genetic counseling | Diagnosis | Prenatal Diagnosis | Atlases
Book
The Journal of biological chemistry, ISSN 1083-351X, 04/2019, Volume 294, Issue 14, pp. 5386 - 5395
Journal Article