Found: 12
Select item for more details and to access through your institution.
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.
- Published in:
- International Ophthalmology, 2019, v. 39, n. 11, p. 2523, doi. 10.1007/s10792-019-01099-4
- By:
- Publication type:
- Article
Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
- Published in:
- Archives of Dermatological Research, 2024, v. 316, n. 1, p. 1, doi. 10.1007/s00403-023-02775-3
- By:
- Publication type:
- Article
Detection of Aneuploidies in Products of Conception and Neonatal Deaths in Iranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA).
- Published in:
- Avicenna Journal of Medical Biotechnology, 2021, v. 13, n. 3, p. 143, doi. 10.18502/ajmb.v13i3.6363
- By:
- Publication type:
- Article
Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.
- Published in:
- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00881-9
- By:
- Publication type:
- Article
Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.
- Published in:
- British Journal of Haematology, 2024, v. 205, n. 3, p. 1180, doi. 10.1111/bjh.19681
- By:
- Publication type:
- Article
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
- By:
- Publication type:
- Article
بررسی ارتباط استرسهای شغلی با قابلیت کاری کارکنان و عملکرد بیمارستان تخت جمشید کرج
- Published in:
- Journal of Occupational Hygiene Engineering, 2019, v. 6, n. 2, p. 52, doi. 10.29252/johe.6.2.7
- By:
- Publication type:
- Article
Heterozygosity assessment of five STR loci located at 5q13 region for preimplantation genetic diagnosis of spinal muscular atrophy.
- Published in:
- Molecular Biology Reports, 2013, v. 40, n. 1, p. 67, doi. 10.1007/s11033-012-2011-3
- By:
- Publication type:
- Article
Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene.
- Published in:
- Iranian Journal of Child Neurology, 2020, v. 14, n. 2, p. 101
- By:
- Publication type:
- Article
Tracing Human Papilloma Virus in Breast Tumors of Iranian Breast Cancer Patients.
- Published in:
- Breast Journal, 2011, v. 17, n. 2, p. 218, doi. 10.1111/j.1524-4741.2010.01053.x
- By:
- Publication type:
- Article
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion).
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. e1, doi. 10.1002/humu.24328
- By:
- Publication type:
- Article
EFFICIENCY OF DRASTIC, GODS AND TOPEFMEA MODELS IN ASSESSING THE VULNERABILITY OF THE AISIN AQUIFER TO NITRATE.
- Published in:
- Environmental Engineering & Management Journal (EEMJ), 2023, v. 22, n. 9, p. 1557, doi. 10.30638/eemj.2023.131
- By:
- Publication type:
- Article