Found: 10
Select item for more details and to access through your institution.
A large deletion, spanning exons 1 to 25 of F8 gene, and a high‐titer factor VIII inhibitor, in severe hemophilia A.
- Published in:
- International Journal of Laboratory Hematology, 2020, v. 42, n. 3, p. e138, doi. 10.1111/ijlh.13174
- By:
- Publication type:
- Article
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
- Published in:
- Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00281-0
- By:
- Publication type:
- Article
Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1029
- By:
- Publication type:
- Article
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1689, doi. 10.1007/s11011-018-0277-4
- By:
- Publication type:
- Article
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
- Published in:
- Archives of Iranian Medicine (AIM), 2021, v. 24, n. 12, p. 887, doi. 10.34172/aim.2021.133
- By:
- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
- By:
- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
- By:
- Publication type:
- Article
Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers.
- Published in:
- Therapeutic Advances in Respiratory Disease, 2024, p. 1, doi. 10.1177/17534666241253990
- By:
- Publication type:
- Article
Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1140034
- By:
- Publication type:
- Article
Effect of DAPK methylation and Bcl2 over expression on risk of recurrence in Transitional Cell Carcinoma of bladder.
- Published in:
- Journal of Biological Research, 2013, v. 19, p. 56
- By:
- Publication type:
- Article