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Neuromuscular Disorders, ISSN 0960-8966, 09/2019
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S31 - S31
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S31 - S31
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2016, Volume 24, pp. S149 - S149
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S36 - S36
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 784 - 795
Psoriasis is a common, immune-mediated genetic disorder of the skin and is associated with arthritis in approximately 30% of cases. Previously, we localized... 
GENERALIZED PUSTULAR PSORIASIS | FAMILIAL PSORIASIS | GENE | PSORIASIS SUSCEPTIBILITY LOCI | GENETICS & HEREDITY | EPIDERMAL-KERATINOCYTES | 17Q | IDENTIFICATION | ARTHRITIS | NF-KAPPA-B | GENOME-WIDE ASSOCIATION | Haiti | Up-Regulation | Exons | Arthritis, Psoriatic - physiopathology | Humans | Child, Preschool | Molecular Sequence Data | NF-kappa B - metabolism | Gene Expression Profiling | Chemokine CCL20 | Genetic Loci | Chromosomes, Human, Pair 17 - genetics | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - metabolism | Cloning, Molecular | HEK293 Cells | Female | Membrane Proteins - metabolism | Amino Acid Sequence | Chromosomes, Human, Pair 17 - metabolism | Epidermis - metabolism | Genetic Predisposition to Disease | Membrane Proteins - genetics | Europe | Guanylate Cyclase - metabolism | Transcription Factors - genetics | Sequence Analysis, DNA | Arthritis, Psoriatic - genetics | Proteins - genetics | Transcription Factors - metabolism | Proteins - metabolism | NF-kappa B - genetics | Keratinocytes - metabolism | Pedigree | Taiwan | Guanylate Cyclase - genetics | Skin | Mutation | Genome, Human | Europeans | Gene mutations | Genetic susceptibility | Psoriasis | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Diseases | Genomics | Medical genetics | Splicing | Susceptibility | Caspase | Keratinocytes | Epidermis | Arthritis | Inflammation | NF- Kappa B protein | CCL20 protein | Skin diseases | genomics | Age | Chemokines | Injuries | Interleukin 8
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, p. S55
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S55 - S55
Journal Article
Journal Article
Expert Review of Endocrinology and Metabolism, ISSN 1744-6651, 05/2017, Volume 12, Issue 3, pp. 171 - 175
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2019, Volume 181, Issue 2, pp. 226 - 229
Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in South East Asia. This disease is due to the founder mutation... 
clinical trial | splicing mutation | adeno‐associated virus | gene therapy | animal model | AADC deficiency | adeno-associated virus | Medicine, Experimental | Medical research | Amino acids | Biological products | Analysis | Phenotypes | Silicone resins | Acids | Medical services | Aromatic-L-amino-acid decarboxylase | Mutation | Gene therapy | Polydimethyl siloxanes | Patients | Hereditary diseases
Journal Article
Congenital Anomalies, ISSN 0914-3505, 05/2016, Volume 56, Issue 3, p. 104
  Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading... 
Journal Article
Congenital Anomalies, ISSN 0914-3505, 05/2016, Volume 56, Issue 3, pp. 104 - 106
Journal Article
Expert review of endocrinology & metabolism, 05/2017, Volume 12, Issue 3, p. 171
More than 15% of all disease-causing mutations result in mRNA splicing defects. U1 snRNA binds to the 5' splice site (5'ss) through base pairing.... 
Journal Article
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