Found: 8
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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
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- Publication type:
- Article
Association of usf1s2 variant in the upstream stimulatory factor 1 gene with premature coronary artery disease in southern population of Iran.
- Published in:
- Tehran University Medical Journal, 2015, v. 72, n. 12, p. 838
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- Publication type:
- Article
Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 4, p. 905, doi. 10.1007/s00438-023-02023-3
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- Publication type:
- Article
SLC26A4 Pathogenic Variants as a Third Cause of Hearing Loss: Role of Three Exons in DFNB4 Deafness in Iran.
- Published in:
- Indian Journal of Otology, 2019, v. 25, n. 3, p. 146, doi. 10.4103/indianjotol.INDIANJOTOL_36_19
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- Publication type:
- Article
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
- Published in:
- Iranian Biomedical Journal, 2023, v. 27, n. 5, p. 307, doi. 10.61186/ibj.27.5.307
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- Publication type:
- Article
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient.
- Published in:
- 2020
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- Publication type:
- journal article
GJB2 c.−23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2015, v. 272, n. 9, p. 2255, doi. 10.1007/s00405-014-3171-7
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- 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
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- Publication type:
- Article