Detalhe da pesquisa
1.
A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report.
Eur J Clin Invest
; 53(4): e13946, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576366
2.
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.
BMC Endocr Disord
; 23(1): 155, 2023 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37474955
3.
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.
J Clin Lab Anal
; 37(21-22): e24983, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950505
4.
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Fetal Pediatr Pathol
; 40(2): 174-180, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707899
5.
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
J Clin Lab Anal
; 34(12): e23544, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32864763
6.
Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.
J Res Med Sci
; 24: 44, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160911
7.
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
Mol Genet Genomic Med
; 12(6): e2476, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38888203
8.
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.
Genes (Basel)
; 15(4)2024 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674434
9.
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.
Iran Biomed J
; 25(4): 297-302, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34217160
10.
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A.
Mol Syndromol
; 12(2): 118-126, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012382
11.
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.
Mol Cell Pediatr
; 8(1): 6, 2021 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969448
12.
Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women.
Int J Infect Dis
; 111: 295-302, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34343706
13.
Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.
Mol Genet Genomic Med
; 8(8): e1274, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32431097
14.
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.
Mol Genet Genomic Med
; 8(10): e1413, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32697043
15.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Mol Genet Genomic Med
; 8(12): e1550, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33205915
16.
Influence of antioxidants' gene variants on risk of diabetes mellitus and its complications: a systematic review.
Minerva Endocrinol
; 44(3): 310-325, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548478
17.
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.
Iran J Kidney Dis
; 12(6): 350-358, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595564
18.
The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.
Iran J Basic Med Sci
; 21(3): 333-341, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511501
19.
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
J Clin Res Pediatr Endocrinol
; 10(4): 343-349, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29809158
20.
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes.
Can J Diabetes
; 42(3): 272-275, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28843469