Garshasbi M - Search Results

1

Isolated Congenital Anosmia and CNGA2 Mutation.

Sailani MR, Jingga I, MirMazlomi SH, Bitarafan F, Bernstein JA, Snyder MP, Garshasbi M. Sailani MR, et al. Among authors: garshasbi m. Sci Rep. 2017 Jun 1;7(1):2667. doi: 10.1038/s41598-017-02947-y. Sci Rep. 2017. PMID: 28572688 Free PMC article.

2

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

Inlora J, Sailani MR, Khodadadi H, Teymurinezhad A, Takahashi S, Bernstein JA, Garshasbi M, Snyder MP. Inlora J, et al. Among authors: garshasbi m. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002014. doi: 10.1101/mcs.a002014. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28652255 Free PMC article.

3

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

Razmara E, Bitarafan F, Esmaeilzadeh-Gharehdaghi E, Almadani N, Garshasbi M. Razmara E, et al. Among authors: garshasbi m. Iran J Basic Med Sci. 2018 Mar;21(3):333-341. doi: 10.22038/IJBMS.2018.26269.6441. Iran J Basic Med Sci. 2018. PMID: 29511501 Free PMC article.

4

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

Daneshjoo O, Garshasbi M. Daneshjoo O, et al. Among authors: garshasbi m. J Med Case Rep. 2018 Mar 15;12(1):68. doi: 10.1186/s13256-018-1608-0. J Med Case Rep. 2018. PMID: 29540233 Free PMC article.

5

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.

Razmara E, Garshasbi M. Razmara E, et al. Among authors: garshasbi m. BMC Cardiovasc Disord. 2018 Jul 3;18(1):137. doi: 10.1186/s12872-018-0867-4. BMC Cardiovasc Disord. 2018. PMID: 29969989 Free PMC article.

6

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.

Hosseini Bereshneh A, Garshasbi M. Hosseini Bereshneh A, et al. Among authors: garshasbi m. J Med Case Rep. 2018 Sep 25;12(1):281. doi: 10.1186/s13256-018-1788-7. J Med Case Rep. 2018. PMID: 30249282 Free PMC article.

7

Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.

Bitarafan F, Garshasbi M. Bitarafan F, et al. Among authors: garshasbi m. Iran J Kidney Dis. 2018 Nov;12(6):350-358. Iran J Kidney Dis. 2018. PMID: 30595564 Free article.

8

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Bitarafan F, Garshasbi M. Bitarafan F, et al. Among authors: garshasbi m. J Res Med Sci. 2019 May 22;24:44. doi: 10.4103/jrms.JRMS_835_18. eCollection 2019. J Res Med Sci. 2019. PMID: 31160911 Free PMC article.

9

Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.

Salehi Chaleshtori AR, Garshasbi M, Salehi A, Noruzinia M. Salehi Chaleshtori AR, et al. Among authors: garshasbi m. Eur J Med Genet. 2020 Mar;63(3):103750. doi: 10.1016/j.ejmg.2019.103750. Epub 2019 Aug 27. Eur J Med Genet. 2020. PMID: 31470097

10

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.

Bitarafan F, Khodaeian M, Almadani N, Kalhor A, Sardehaei EA, Garshasbi M. Bitarafan F, et al. Among authors: garshasbi m. Fetal Pediatr Pathol. 2021 Apr;40(2):174-180. doi: 10.1080/15513815.2019.1686784. Epub 2019 Nov 9. Fetal Pediatr Pathol. 2021. PMID: 31707899

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

153 results

Search Page

Filters