Found: 54
Select item for more details and to access through your institution.
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
- Published in:
- International Ophthalmology, 2020, v. 40, n. 9, p. 2223, doi. 10.1007/s10792-020-01401-9
- By:
- Publication type:
- Article
Action Myoclonus and Seizure in Kufor‐Rakeb Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 195, doi. 10.1002/mdc3.12570
- By:
- Publication type:
- Article
MicroRNAs that target RGS5.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2015, v. 18, n. 2, p. 108
- By:
- Publication type:
- Article
An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2014, v. 17, n. 10, p. 735
- By:
- Publication type:
- Article
Lack of Association between the MEF2A Gene and Coronary Artery Disease in Iranian Families.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2013, v. 16, n. 8, p. 950
- By:
- Publication type:
- Article
Confident gene activity prediction based on single histone modification H2BK5ac in human cell lines.
- Published in:
- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-016-1418-6
- By:
- Publication type:
- Article
World‐wide tracking of major SARS‐CoV‐2 genome haplotypes in sequences of June 1 to November 15, 2020 and discovery of rapid expansion of a new haplotype.
- Published in:
- Journal of Medical Virology, 2021, v. 93, n. 5, p. 3251, doi. 10.1002/jmv.26802
- By:
- Publication type:
- Article
Evolution of SARS‐CoV‐2 genome from December 2019 to late March 2020: Emerged haplotypes and informative Tag nucleotide variations.
- Published in:
- Journal of Medical Virology, 2021, v. 93, n. 4, p. 2010, doi. 10.1002/jmv.26553
- By:
- Publication type:
- Article
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1240
- By:
- Publication type:
- Article
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 526, doi. 10.1038/jhg.2013.45
- By:
- Publication type:
- Article
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 613, doi. 10.1038/jhg.2012.70
- By:
- Publication type:
- Article
Insights into the regulatory molecules involved in glaucoma pathogenesis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 782, doi. 10.1002/ajmg.c.31833
- By:
- Publication type:
- Article
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1507, doi. 10.1002/ajmg.a.61184
- By:
- Publication type:
- Article
Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
- Published in:
- Molecular Genetics & Genomics, 2020, v. 295, n. 4, p. 1039, doi. 10.1007/s00438-020-01663-z
- By:
- Publication type:
- Article
Multiplex Pyrosequencing.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 7, p. e31, doi. 10.1093/nar/30.7.e31
- By:
- Publication type:
- Article
Multi-stage analysis of FOXM1, PYROXD1, hTERT, PPARA, PIM3, BMI1 and MCTP1 expression patterns in colorectal cancer.
- Published in:
- Gastroenterology & Hepatology from Bed to Bench, 2022, v. 15, n. 2, p. 120
- By:
- Publication type:
- Article
Impact of hfq and sigE on the tolerance of Zymomonas mobilis ZM4 to furfural and acetic acid stresses.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240330
- By:
- Publication type:
- Article
A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
- Published in:
- Molecular Vision, 2020, v. 26, p. 757
- By:
- Publication type:
- Article
Evolution of the SARS-CoV-2 genome and emergence of variants of concern.
- Published in:
- Archives of Virology, 2022, v. 167, n. 2, p. 293, doi. 10.1007/s00705-021-05295-5
- By:
- Publication type:
- Article
Identification of a mutation in TNRC18 in a patient with clinical features of Fazio‐Londe disease.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
- Published in:
- Acta Neurologica Belgica, 2024, v. 124, n. 4, p. 1363, doi. 10.1007/s13760-024-02598-7
- By:
- Publication type:
- Article
Homozygous Missense Mutation in Fibulin-5 in an Iranian Autosomal Recessive Cutis Laxa Pedigree and Associated Haplotype.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 7, p. 1506, doi. 10.1038/sj.jid.5700247
- By:
- Publication type:
- Article
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 2, p. 640, doi. 10.1007/s00415-020-10171-4
- By:
- Publication type:
- Article
The frequency of spinocerebellar ataxia type 23 in a UK population.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 3, p. 856, doi. 10.1007/s00415-012-6721-1
- By:
- Publication type:
- Article
Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population.
- Published in:
- 2013
- By:
- Publication type:
- Correction Notice
The p.Gly61Glu Mutation in CYP1B1 Affects the Extracellular Matrix in Glaucoma Patients.
- Published in:
- Ophthalmic Research, 2016, v. 56, n. 2, p. 98, doi. 10.1159/000443508
- By:
- Publication type:
- Article
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.
- Published in:
- Clinical & Experimental Ophthalmology, 2008, v. 36, n. 1, p. 26, doi. 10.1111/j.1442-9071.2007.01649.x
- By:
- Publication type:
- Article
Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3637, doi. 10.1093/hmg/ddz222
- By:
- Publication type:
- Article
Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 12, p. 3556, doi. 10.1111/ene.15528
- By:
- Publication type:
- Article
Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
- Published in:
- Journal of Dermatology, 2012, v. 39, n. 4, p. 375, doi. 10.1111/j.1346-8138.2011.01412.x
- By:
- Publication type:
- Article
Prenatal diagnosis of primary congenital glaucoma and histopathological features in a fetal globe with cytochrome p4501B1 mutations.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 2, p. 933, doi. 10.1177/11206721211051235
- By:
- Publication type:
- Article
Mutation in ST6GALNAC5 identified in family with coronary artery disease.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep03595
- By:
- Publication type:
- Article
Normalization of miRNA qPCR high-throughput data: a comparison of methods.
- Published in:
- Biotechnology Letters, 2013, v. 35, n. 6, p. 843, doi. 10.1007/s10529-013-1150-5
- By:
- Publication type:
- Article
Neural differentiation of mouse embryonic stem cells on conductive nanofiber scaffolds.
- Published in:
- Biotechnology Letters, 2012, v. 34, n. 7, p. 1357, doi. 10.1007/s10529-012-0889-4
- By:
- Publication type:
- Article
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1182, doi. 10.1002/humu.22105
- By:
- Publication type:
- Article
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3969, doi. 10.1093/hmg/ddp338
- By:
- Publication type:
- Article
Erratum: Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran.
- Published in:
- Journal of Ophthalmic & Vision Research, 2022, v. 17, n. 2, p. 311, doi. 10.18502/jovr.v16i4.9747
- By:
- Publication type:
- Article
Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients.
- Published in:
- Journal of Ophthalmic & Vision Research, 2022, v. 17, n. 1, p. 51, doi. 10.18502/jovr.v17i1.10170
- By:
- Publication type:
- Article
Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran.
- Published in:
- Journal of Ophthalmic & Vision Research, 2021, v. 16, n. 4, p. 574, doi. 10.18502/jovr.v16i4.9747
- By:
- Publication type:
- Article
Genetic Basis of Primary Angle Closure Glaucoma: The Role of Collagens and Extracellular Matrix.
- Published in:
- Journal of Ophthalmic & Vision Research, 2020, v. 15, n. 1, p. 1, doi. 10.18502/jovr.v15i1.5930
- By:
- Publication type:
- Article
P.Gly61Glu and P.Arg368His mutations in CYP1B1 that cause congenital glaucoma may be relatively frequent in certain regions of Gilan province, Iran.
- Published in:
- Journal of Ophthalmic & Vision Research, 2018, v. 13, n. 4, p. 403, doi. 10.4103/jovr.jovr_147_17
- By:
- Publication type:
- Article
FMNL2 with Functions Related to the Cytoskeleton is Partially Regulated by PAX6.
- Published in:
- Journal of Ophthalmic & Vision Research, 2017, v. 12, n. 4, p. 407, doi. 10.4103/jovr.jovr_8_17
- By:
- Publication type:
- Article
Screening for MIR184 Mutations in Iranian Patients with Keratoconus.
- Published in:
- Journal of Ophthalmic & Vision Research, 2016, v. 11, n. 1, p. 3, doi. 10.4103/2008-322X.180715
- By:
- Publication type:
- Article
A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.
- Published in:
- Journal of Ophthalmic & Vision Research, 2015, v. 10, n. 2, p. 123, doi. 10.4103/2008-322X.163783
- By:
- Publication type:
- Article
Glaucoma in Iran and Contributions of Studies in Iran to the Understanding of the Etiology of Glaucoma.
- Published in:
- Journal of Ophthalmic & Vision Research, 2015, v. 10, n. 1, p. 68, doi. 10.4103/2008-322X.156120
- By:
- Publication type:
- Article
Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients.
- Published in:
- Journal of Ophthalmic & Vision Research, 2010, v. 5, n. 2, p. 101
- By:
- Publication type:
- Article
Cytochrome c oxidase subunit 1 barcode data of fish of the Nayband National Park in the Persian Gulf and analysis using meta-data flag several cryptic species.
- Published in:
- Molecular Ecology Resources, 2011, v. 11, n. 3, p. 461, doi. 10.1111/j.1755-0998.2011.02989.x
- By:
- Publication type:
- Article
PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- journal article
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
- Published in:
- Movement Disorders, 2013, v. 28, n. 2, p. 228, doi. 10.1002/mds.25271
- By:
- Publication type:
- Article