Detalles de la búsqueda
1.
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Hum Genomics;
18(1): 35, 2024 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38570878
2.
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Hum Genomics;
17(1): 12, 2023 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36803953
3.
COLQ-related congenital myasthenic syndrome: An integrative view.
Neurogenetics;
24(3): 189-200, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37231228
4.
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Neurogenetics;
24(4): 279-289, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37597066
5.
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
J Hum Genet;
68(10): 657-669, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37217689
6.
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
Cerebellum;
22(4): 640-650, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35731353
7.
Determinants of perivascular adipose tissue stranding as a novel imaging marker and its relation to inflammatory biomarker high-sensitivity C-reactive protein.
Pol J Radiol;
88: e141-e148, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37057201
8.
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Dev Neurosci;
43(6): 348-357, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34469883
9.
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.
Am J Med Genet A;
185(11): 3433-3445, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34415104
10.
A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease.
J Clin Lab Anal;
34(4): e23147, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-31867804
11.
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients.
Neuropediatrics;
50(2): 130-134, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30791064
12.
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.
J Clin Lab Anal;
33(2): e22663, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30259573
13.
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
J Clin Lab Anal;
33(7): e22923, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31115957
14.
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Neurogenetics;
24(4): 317-318, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37668767
15.
Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance.
J Clin Lab Anal;
32(6): e22419, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29493010
16.
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D.
Med J Islam Repub Iran;
32: 5, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29977873
17.
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.
Ann Hum Genet;
81(4): 135-140, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28523642
18.
Construction, expression, and activity of a novel immunotoxin comprising a humanized antiepidermal growth factor receptor scFv and modified Pseudomonas aeruginosa exotoxin A.
Anticancer Drugs;
28(3): 263-270, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27861173
19.
The Frequency of HBB Mutations Among ß-Thalassemia Patients in Hamadan Province, Iran.
Hemoglobin;
41(1): 61-64, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28391758
20.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Genet Med;
18(4): 364-71, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26226137