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Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 182 - 187
Journal Article
PLoS biology, ISSN 1544-9173, 04/2019, Volume 17, Issue 4, pp. e3000194 - e3000194
Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding the development of therapies. We took a... 
PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOLOGY | GENOME-WIDE | CHANNELS | GENERATION | 14-3-3-EPSILON | INHERITANCE | CHILDHOOD | ASSOCIATION | COCHLEAR PATHOLOGY | IMPAIRMENT | Deafness | Visualization | Neurosciences | Thresholds | Pathogenesis | Brain stem | Genes | Hearing impairment | Mutants | Hearing loss | Human populations | Heterogeneity | Hearing | Pathways | Physiology | Software | Mutation | Children | Psychiatry | Supervision | Age
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1833 - 1852
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2005, Volume 85, Issue 2, pp. 85 - 87
Journal Article
BMC Gastroenterology, ISSN 1471-230X, 12/2012, Volume 12, Issue 1
The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various... 
Infants (Newborn) | Jaundice, Obstructive | Liver diseases | Phosphatases | RNA | Analysis | Liver | Amino acids | Glycoproteins | Cholestasis | Prevalence studies (Epidemiology)
Journal Article
Journal Article
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 10/2009, Volume 31, Issue 10, pp. 768 - 770
The authors reported a 14-year-old boy who presented with multiple organs thrombosis and subluxation of lens. His diagnosis of homocystinuria was delayed owing... 
Thromboembolism | Homocystinuria | Mutation | HOMOCYSTEINE | thromboembolism | RISK | DEFICIENCY | CHILDREN | mutation | ONCOLOGY | PEDIATRICS | homocystinuria | HEMATOLOGY | ISCHEMIC-STROKE | MOLECULAR-BASIS | EXPRESSION | DNA Mutational Analysis | Thrombosis - etiology | Humans | Adolescent | Male | Cystathionine beta-Synthase - genetics | Thailand | Homocystinuria - genetics | Index Medicus
Journal Article
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2005, Volume 52, Issue 1, pp. 122 - 124
Journal Article