Jafari Khamirani H - Search Results

1

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.

Manoochehri J, Shiri A, Khoddam S, Aghasipour M, Kamal N, Jafari Khamirani H, Dastgheib SA, Dianatpour M, Tabei SMB. Manoochehri J, et al. Among authors: jafari khamirani h. Eur J Med Genet. 2024 Aug;70:104953. doi: 10.1016/j.ejmg.2024.104953. Epub 2024 Jun 7. Eur J Med Genet. 2024. PMID: 38852771 Free article. Review.

2

Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.

Fazelzadeh Haghighi M, Jafari Khamirani H, Fallahi J, Monfared AA, Ashrafi Dehkordi K, Tabei SMB. Fazelzadeh Haghighi M, et al. Among authors: jafari khamirani h. Mol Genet Genomic Med. 2024 May;12(5):e2445. doi: 10.1002/mgg3.2445. Mol Genet Genomic Med. 2024. PMID: 38722107 Free PMC article.

3

Two siblings with PEX11B-related peroxisome biogenesis disorder.

Khoddam S, Kamal N, Shiri A, Jafari Khamirani H, Manoochehri J, Dianatpour M, Tabei SMB, Dastgheib SA. Khoddam S, et al. Among authors: jafari khamirani h. Eur J Med Genet. 2024 Apr;68:104928. doi: 10.1016/j.ejmg.2024.104928. Epub 2024 Feb 28. Eur J Med Genet. 2024. PMID: 38423277 Free article.

4

Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation.

Shiri A, Jafari Khamirani H, Kamal N, Manoochehri J, Dianatpour M, Tabei SMB, Dastgheib SA. Shiri A, et al. Among authors: jafari khamirani h. Eur J Med Genet. 2023 Oct;66(10):104846. doi: 10.1016/j.ejmg.2023.104846. Epub 2023 Sep 19. Eur J Med Genet. 2023. PMID: 37734708

5

A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.

Anushiravani A, Jafari Khamirani H, Mohamadkhani A, Mani A, Dianatpour M, Malekzadeh R. Anushiravani A, et al. Among authors: jafari khamirani h. Arch Iran Med. 2023 Feb 1;26(2):86-91. doi: 10.34172/aim.2023.14. Arch Iran Med. 2023. PMID: 37543928 Free PMC article.

6

Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.

Fazelzadeh Haghighi N, Kamal N, Jafari Khamirani H, Fazelzadeh Haghighi M, Dastgheib SA, Dianatpour M, Tabei SMB. Fazelzadeh Haghighi N, et al. Among authors: jafari khamirani h. J Dermatol. 2023 Oct;50(10):1357-1362. doi: 10.1111/1346-8138.16849. Epub 2023 Jun 2. J Dermatol. 2023. PMID: 37269152 Review.

7

NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES results.

Kamal N, Jafari Khamirani H, Dara M, Dianatpour M. Kamal N, et al. Among authors: jafari khamirani h. Gene. 2023 May 30;867:147347. doi: 10.1016/j.gene.2023.147347. Epub 2023 Mar 9. Gene. 2023. PMID: 36898513

8

A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.

Mohammadi S, Jafari Khamirani H, Baneshi M, Kamal N, Manoocheri J, Saffar M, Dianatpour M, Tabei SMB, Dastgheib SA. Mohammadi S, et al. Among authors: jafari khamirani h. Ann Hum Genet. 2023 Jul;87(4):147-157. doi: 10.1111/ahg.12501. Epub 2023 Mar 1. Ann Hum Genet. 2023. PMID: 36856139

9

The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review.

Shafieipour N, Jafari Khamirani H, Kamal N, Tabei SMB, Dianatpour M, Dastgheib SA. Shafieipour N, et al. Among authors: jafari khamirani h. Eur J Med Genet. 2023 Apr;66(4):104707. doi: 10.1016/j.ejmg.2023.104707. Epub 2023 Jan 26. Eur J Med Genet. 2023. PMID: 36709796 Review.

10

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.

Abbasi Z, Jafari Khamirani H, Tabei SMB, Manoochehri J, Dianatpour M, Dastgheib SA. Abbasi Z, et al. Among authors: jafari khamirani h. Hum Genome Var. 2023 Jan 13;10(1):1. doi: 10.1038/s41439-023-00229-w. Hum Genome Var. 2023. PMID: 36635257 Free PMC article.

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