Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.
Clin Genet
; 105(6): 611-619, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308583
3.
The First Iranian Case of Unstable Hemoglobin Santa Ana.
Hemoglobin
; 48(2): 125-128, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500334
4.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896672
5.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598158
6.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
7.
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Hemoglobin
; 47(4): 147-151, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548174
8.
Genetic etiology of hearing loss in Iran.
Hum Genet
; 141(3-4): 623-631, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35050400
9.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761294
10.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630790
11.
A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.
J Gene Med
; 24(4): e3406, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967075
12.
Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
Can J Neurol Sci
; 49(5): 651-661, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353391
13.
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet
; 15(9): e1008385, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550250
14.
DNA Banking to Assess Genetic Influences on Schizophrenia.
Med J Islam Repub Iran
; 36: 42, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128322
15.
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Clin Genet
; 99(1): 187-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895917
16.
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Clin Genet
; 100(1): 59-78, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33713422
17.
Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.
RNA Biol
; 18(11): 1905-1919, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33499731
18.
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Brain
; 143(10): 2911-2928, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33103737
19.
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.
Int J Neurosci
; 131(10): 962-974, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32352326
20.
A Novel ß0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Hemoglobin
; 45(3): 212-214, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34167424