First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Works matching AU Mahdavi, Mahan
Results: 10
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Engineering of a 3D Printed Bilayer Artificial Skin Bio‐Mimicking Epidermis and Dermis for Skin Tissue Engineering Applications.
- Published in:
- Polymers for Advanced Technologies, 2025, v. 36, n. 4, p. 1, doi. 10.1002/pat.70173
- By:
- Publication type:
- Article
3
Improved biological behaviours and osteoinductive capacity of the gelatin nanofibers while composites with GO/MgO.
- Published in:
- Cell Biochemistry & Function, 2022, v. 40, n. 2, p. 189, doi. 10.1002/cbf.3688
- By:
- Publication type:
- Article
4
First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.
- Published in:
- European Journal of Ophthalmology, 2021, v. 31, n. 5, p. NP23, doi. 10.1177/1120672120921734
- By:
- Publication type:
- Article
5
Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.
- Published in:
- International Journal of Preventive Medicine, 2024, v. 15, n. 4, p. 1, doi. 10.4103/ijpvm.ijpvm_50_23
- By:
- Publication type:
- Article
6
Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
7
Nonlinear Free Vibration Analysis of In-plane Bi-directional Functionally Graded Plate with Porosities Resting on Elastic Foundations.
- Published in:
- International Journal of Applied Mechanics, 2022, v. 14, n. 1, p. 1, doi. 10.1142/S1758825121501313
- By:
- Publication type:
- Article
8
Abstract Introduction of a Novel Pathogenic Variant (c.1684G>A) in The SOX5 Gene Associated With Lamb–Shaffer Syndrome in a Family From North of Iran.
- Published in:
- Case Reports in Clinical Practice, 2023, v. 8, n. 6, p. 233
- By:
- Publication type:
- Article
9
Hb<sup>Adrian</sup> (α1:c.251del, p.Leu84Argfs*19)--A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran.
- Published in:
- Thalassemia Reports, 2023, v. 13, n. 2, p. 152, doi. 10.3390/thalassrep13020014
- By:
- Publication type:
- Article
10
Hb Mazandaran (α1) α51 Gly ≯ Cys(CE9), c.154 GGC ≯ TGC: A Novel Haemoglobin Variant of α1-Globin Gene.
- Published in:
- Thalassemia Reports, 2022, v. 12, n. 3, p. 51, doi. 10.3390/thalassrep12030010
- By:
- Publication type:
- Article