Works matching IS 1178704X AND DT 2017 AND VI 10
Results: 12
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 95, doi. 10.2147/TACG.S129638
- By:
- Publication type:
- Article
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 75, doi. 10.2147/TACG.S126277
- By:
- Publication type:
- Article
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 85, doi. 10.2147/TACG.S128455
- By:
- Publication type:
- Article
Primary ciliary dyskinesia: mechanisms and management.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 67, doi. 10.2147/tacg.s127129
- By:
- Publication type:
- Article
Maple syrup urine disease: mechanisms and management.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962
- By:
- Publication type:
- Article
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 43, doi. 10.2147/TACG.S113310
- By:
- Publication type:
- Article
Treating EGFR mutation resistance in non-small cell lung cancer - role of osimertinib.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 49, doi. 10.2147/TACG.S103471
- By:
- Publication type:
- Article
Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 37, doi. 10.2147/TACG.S139788
- By:
- Publication type:
- Article
Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 27, doi. 10.2147/TACG.S127531
- By:
- Publication type:
- Article
Mitochondrial diseases: advances and issues.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 21, doi. 10.2147/TACG.S94267
- By:
- Publication type:
- Article
Update on the clinical management of Wilson's disease.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 9, doi. 10.2147/TACG.S79121
- By:
- Publication type:
- Article
Genetics of tuberous sclerosis complex: implications for clinical practice.
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 1, doi. 10.2147/TACG.S90262
- By:
- Publication type:
- Article