Found: 24
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A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00944
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- Publication type:
- Article
DNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2013, v. 16, n. 8, p. 946
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- Publication type:
- Article
Investigating the association between common DRD2/ANKK1 genetic polymorphisms and schizophrenia: a meta-analysis.
- Published in:
- Journal of Genetics, 2021, v. 100, n. 2, p. 1, doi. 10.1007/s12041-021-01306-1
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- Publication type:
- Article
A Comprehensive Bioinformatics Analysis of UBE2C in Cancers.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 9, p. 2228, doi. 10.3390/ijms20092228
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- Publication type:
- Article
Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.
- Published in:
- 2020
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- Publication type:
- journal article
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0647-0
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- Publication type:
- Article
Splicing defect in <italic>FKBP10</italic> gene causes autosomal recessive osteogenesis imperfecta disease: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
- Published in:
- BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0439-y
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- Publication type:
- Article
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
- Published in:
- 2017
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- Publication type:
- Case Study
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.
- Published in:
- 2017
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- Publication type:
- Case Study
Autophagy: The Potential Link between SARS-CoV-2 and Cancer.
- Published in:
- Cancers, 2021, v. 13, n. 22, p. 5721, doi. 10.3390/cancers13225721
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- Publication type:
- Article
Altered Expression of hsa_circ_0001445 and hsa_circ_0020397 in Breast Cancer Representing Associations with BMI and Reproductive Factors.
- Published in:
- Archives of Iranian Medicine (AIM), 2022, v. 25, n. 12, p. 817, doi. 10.34172/aim.2022.127
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- Publication type:
- Article
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0893-9
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- Publication type:
- Article
A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0855-2
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- Publication type:
- Article
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0743-1
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- Publication type:
- Article
Involvement of N4BP2L1, PLEKHA4, and BEGAIN genes in breast cancer and muscle cell development.
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1295403
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- Publication type:
- Article
Impact of KIF6 Polymorphism rs20455 on Coronary Heart Disease Risk and Effectiveness of Statin Therapy in 100 Patients from Southern Iran.
- Published in:
- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 10, p. 683
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- Publication type:
- Article
The Same Haplotype for Two Unrelated Wilson Disease Patients with New ATP7B Mutation.
- Published in:
- 2014
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- Publication type:
- Journal Article
The Same Haplotype for Two Unrelated Wilson Disease Patients with New ATP7B Mutation.
- Published in:
- Archives of Iranian Medicine (AIM), 2014, v. 17, n. 11, p. 755
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- Publication type:
- Article
Expanding the molecular and clinical phenotypes of FUT8‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221
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- Publication type:
- Article
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
- Published in:
- Hepatitis Monthly, 2013, v. 13, n. 5, p. 1, doi. 10.5812/hepatmon.8375
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- Publication type:
- Article
LncRNA–miRNA–mRNA Networks of Gastrointestinal Cancers Representing Common and Specific LncRNAs and mRNAs.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2021.791919
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- Publication type:
- Article
Author's reply.
- Published in:
- Journal of Ophthalmic & Vision Research, 2018, v. 13, n. 2, p. 213, doi. 10.4103/jovr.jovr_52_18
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- Publication type:
- Article
VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.
- Published in:
- Journal of Ophthalmic & Vision Research, 2017, v. 12, n. 2, p. 135, doi. 10.4103/jovr.jovr_97_16
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- Publication type:
- Article