Found: 46
Select item for more details and to access through your institution.
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genotype–phenotype correlation in patients with deletional and nondeletional mutations of Hb H disease in Southwest of Iran.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08986-4
- By:
- Publication type:
- Article
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
- Published in:
- 2017
- By:
- Publication type:
- Letter
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
- Published in:
- Human Genetics, 2024, v. 143, n. 3, p. 311, doi. 10.1007/s00439-024-02649-2
- By:
- Publication type:
- Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
- By:
- Publication type:
- Article
Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2294
- By:
- Publication type:
- Article
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2099
- By:
- Publication type:
- Article
Inflammatory Profile, Age of Onset, and the MTHFR Polymorphism in Patients with Multiple Sclerosis.
- Published in:
- Journal of Molecular Neuroscience, 2011, v. 44, n. 1, p. 6, doi. 10.1007/s12031-010-9486-y
- By:
- Publication type:
- Article
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 5, p. 1289, doi. 10.1007/s00438-022-01917-y
- By:
- Publication type:
- Article
A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease.
- Published in:
- Iranian Biomedical Journal, 2014, v. 18, n. 3, p. 143
- By:
- Publication type:
- Article
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
- Published in:
- Biochemical Genetics, 2018, v. 56, n. 5, p. 506, doi. 10.1007/s10528-018-9857-6
- By:
- Publication type:
- Article
A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease.
- Published in:
- Zahedan Journal of Research in Medical Sciences, 2016, v. 18, n. 10, p. 1, doi. 10.17795/zjrms-3399
- By:
- Publication type:
- Article
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
- Published in:
- Archives of Iranian Medicine (AIM), 2022, v. 25, n. 5, p. 339, doi. 10.34172/aim.2022.55
- By:
- Publication type:
- Article
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 6, p. 220, doi. 10.1111/cga.12439
- By:
- Publication type:
- Article
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 1, p. 105, doi. 10.1001/jamaneurol.2017.2065
- By:
- Publication type:
- Article
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44987-6
- By:
- Publication type:
- Article
Radiographic Evaluation of Root Canal Fillings Accomplished by Undergraduate Dental Students.
- Published in:
- Iranian Endodontic Journal, 2015, v. 10, n. 2, p. 127
- By:
- Publication type:
- Article
Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.
- Published in:
- International Journal of Preventive Medicine, 2020, v. 11, n. 1, p. 1, doi. 10.4103/ijpvm.IJPVM_462_19
- By:
- Publication type:
- Article
Cytogenetic identification of Khuzestani water Buffalo.
- Published in:
- Philippine Journal of Science, 2019, v. 148, n. 1, p. 357, doi. 10.30466/vrf.2018.33075
- By:
- Publication type:
- Article
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad -Sakati syndrome.
- Published in:
- Jornal de Pediatria, 2020, v. 96, n. 1, p. 60, doi. 10.1016/j.jped.2018.07.005
- By:
- Publication type:
- Article
Prenatal diagnosis of a rare de novo 1q22‐q25.1 chromosomal deletion syndrome using oligo array CGH.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 2, p. 114, doi. 10.1002/ccr3.168
- By:
- Publication type:
- Article
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
- Published in:
- Iranian Journal of Child Neurology, 2019, v. 13, n. 2, p. 155
- By:
- Publication type:
- Article
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 346, doi. 10.1111/cge.14264
- By:
- Publication type:
- Article
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
- Published in:
- Archives of Iranian Medicine (AIM), 2017, v. 20, n. 1, p. 22
- By:
- Publication type:
- Article
Case Report. Wolf-Hirschhorn Syndrome: A Case with Normal Karyotype, Demon-strated by Array CGH (aCGH)
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Case Report. Wolf-Hirschhorn Syndrome: A Case with Normal Karyotype, Demon-strated by Array CGH (aCGH).
- Published in:
- Archives of Iranian Medicine (AIM), 2014, v. 17, n. 9, p. 642
- By:
- Publication type:
- Article
A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A > T globin Gene.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A > T globin Gene.
- Published in:
- Archives of Iranian Medicine (AIM), 2014, v. 17, n. 7, p. 475
- By:
- Publication type:
- Article
Identification of IVS-I (-1) (G > C) or Hb Monroe as a Report on the Beta-globin Gene with a Beta-thalassemia Minor Phenotype in South of Iran.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Identification of IVS-I (-1) (G > C) or Hb Monroe as a Report on the Beta-globin Gene with a Beta-thalassemia Minor Phenotype in South of Iran.
- Published in:
- Archives of Iranian Medicine (AIM), 2013, v. 16, n. 9, p. 563
- By:
- Publication type:
- Article
Gene expression in blood from an individual with β‐thalassemia: An RNA sequence analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.740
- By:
- Publication type:
- Article
Wound Healing Activity of Extracts and Formulations of Aloe vera, Henna, Adiantum capillus-veneris, and Myrrh on Mouse Dermal Fibroblast Cells.
- Published in:
- International Journal of Preventive Medicine, 2017, v. 8, n. 1, p. 47, doi. 10.4103/ijpvm.IJPVM_338_16
- By:
- Publication type:
- Article
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
- Published in:
- Movement Disorders, 2024, v. 39, n. 9, p. 1624, doi. 10.1002/mds.29883
- By:
- Publication type:
- Article
Lack of Pathogenic Mutation in the Human CAII Gene in an Individual Suffering Renal Tubular Acidosis.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
- Published in:
- Frontiers in Neuroscience, 2019, p. 1, doi. 10.3389/fnins.2019.00974
- By:
- Publication type:
- Article
Cytogenetic identification of Khuzestani water Buffalo.
- Published in:
- Veterinary Research Forum, 2019, v. 9, n. 4, p. 357, doi. 10.30466/vrf.2018.33075
- By:
- Publication type:
- Article
Cytogenetic identification of Khuzestani water Buffalo.
- Published in:
- Veterinary Research Forum, 2018, v. 9, n. 4, p. 357, doi. 10.30466/vrf.2018.33075
- By:
- Publication type:
- Article
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1343094
- By:
- Publication type:
- Article
News and Reports: Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.
- Published in:
- Basic & Clinical Neuroscience, 2020, v. 11, n. 4, p. 549, doi. 10.32598/bcn.9.10.455
- By:
- Publication type:
- Article
Prevalence of SARS-CoV-2 in Patients with Severe Pneumonia in Khuzestan Province, Iran.
- Published in:
- Iranian Journal of Allergy, Asthma & Immunology, 2020, v. 19, n. 5, p. 471
- By:
- Publication type:
- Article
Effect of the herbal mixture composed of Aloe Vera, Henna, Adiantum capillus-veneris and on wound healing in Myrrha streptozotocin-induced diabetic rats.
- Published in:
- BMC Complementary & Alternative Medicine, 2016, v. 16, p. 1, doi. 10.1186/s12906-016-1359-7
- By:
- Publication type:
- Article
Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual.
- Published in:
- EJHaem, 2021, v. 2, n. 3, p. 366, doi. 10.1002/jha2.262
- By:
- Publication type:
- Article