Detalles de la búsqueda
1.
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.
Genet Med
; 26(2): 101028, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37978863
2.
Decellularized skin pretreatment by monophosphoryl lipid A and lactobacillus casei supernatant accelerate skin recellularization.
Mol Biol Rep
; 51(1): 675, 2024 May 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38787484
3.
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.
Ann Hum Genet
; 87(6): 295-301, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37589173
4.
Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.
Mol Genet Genomics
; 298(2): 485-493, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36651988
5.
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
Mol Genet Genomics
; 298(3): 693-708, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37004560
6.
Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
Int J Neurosci
; 132(6): 558-562, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32962506
7.
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
J Hum Genet
; 66(10): 973-981, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33767317
8.
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
BMC Med Genet
; 21(1): 127, 2020 06 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32517708
9.
Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.
BMC Med Genet
; 21(1): 13, 2020 01 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-31937257
10.
Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.
BMC Med Genet
; 21(1): 58, 2020 03 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-32197577
11.
Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
Mol Biol Rep
; 47(7): 5355-5364, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32623615
12.
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
Audiol Neurootol
; 25(5): 258-262, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32485727
13.
Upregulation of MTOR, RPS6KB1, and EIF4EBP1 in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls.
Metab Brain Dis
; 35(8): 1309-1316, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32809098
14.
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Genomics
; 111(4): 840-848, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29752989
15.
Engineered zinc-finger nuclease to generate site-directed modification in the KLF1 gene for fetal hemoglobin induction.
J Cell Biochem
; 120(5): 8438-8446, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-30556211
16.
Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
J Cell Biochem
; 120(3): 3367-3372, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30203563
17.
A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.
Audiol Neurootol
; 24(5): 258-263, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31661684
18.
Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.
Audiol Neurootol
; 24(1): 25-31, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30943474
19.
Epigenetics and Common Non Communicable Disease.
Adv Exp Med Biol
; 1121: 7-20, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31392648
20.
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
Int J Audiol
; 58(10): 628-634, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31187663