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Journal Article
Muscle & Nerve, ISSN 0148-639X, 09/2014, Volume 50, Issue 3, pp. 333 - 339
Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 06/2013, Volume 47, Issue 6, p. 931
  Introduction Clinical heterogeneity of limb-girdle muscular dystrophies (LGMDs, 24 known subtypes), which includes overlapping phenotypes and varying ages of... 
Haplotypes | Mutation
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2015, Volume 77, Issue 2, pp. 206 - 214
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2013, Volume 110, Issue 37, p. 14990
  Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer.... 
Proteins | Obesity | Rodents | Diabetes | Metabolism | Chromosomes | Risk factors
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, p. 685
CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies,... 
Congenital diseases | Biomarkers | Genetics | Biochemistry | Mutation | Binding sites
Journal Article
Human Mutation, ISSN 1059-7794, 01/2017, Volume 38, Issue 1, pp. 122 - 122
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 06/2016, Volume 37, Issue 6, pp. 559 - 563
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, p. 363
Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. Approximately 20% of patients do not... 
Congenital diseases | Genomics | Genetic research | Glycosylation | Mutation | Gene expression
Journal Article
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