Found: 8
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Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer.
- Published in:
- Acta Medica Iranica, 2019, v. 57, n. 3, p. 147
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- Publication type:
- Article
Pharmacogenetics and Personalized Medicine in Pancreatic Cancer.
- Published in:
- Acta Medica Iranica, 2017, v. 55, n. 3, p. 194
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- Publication type:
- Article
Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy.
- Published in:
- International Journal of Pediatrics, 2021, p. 1, doi. 10.1155/2021/6695119
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- Publication type:
- Article
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.
- Published in:
- 2022
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- Publication type:
- journal article
Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.
- Published in:
- Journal of Molecular Neuroscience, 2020, v. 70, n. 10, p. 1565, doi. 10.1007/s12031-020-01594-9
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- Publication type:
- Article
Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2391, doi. 10.1002/ajmg.a.61776
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- Publication type:
- Article