Found: 25
Select item for more details and to access through your institution.
Acquired immune resistance is associated with interferon signature and modulation of KLF6/c‐MYB transcription factors in myeloid leukemia.
- Published in:
- European Journal of Immunology, 2024, v. 54, n. 5, p. 1, doi. 10.1002/eji.202350717
- By:
- Publication type:
- Article
Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.679919
- By:
- Publication type:
- Article
A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 347, doi. 10.1159/000537952
- By:
- Publication type:
- Article
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 175, doi. 10.1159/000535407
- By:
- Publication type:
- Article
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 258, doi. 10.1159/000528769
- By:
- Publication type:
- Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078
- By:
- Publication type:
- Article
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 302, doi. 10.1159/000510481
- By:
- Publication type:
- Article
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63629
- By:
- Publication type:
- Article
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1119, doi. 10.1002/ajmg.a.63120
- By:
- Publication type:
- Article
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3427, doi. 10.1002/ajmg.a.62462
- By:
- Publication type:
- Article
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3143, doi. 10.1002/ajmg.a.38495
- By:
- Publication type:
- Article
The Effect of Boron-Containing Nano-Hydroxyapatite on Bone Cells.
- Published in:
- Biological Trace Element Research, 2020, v. 193, n. 2, p. 364, doi. 10.1007/s12011-019-01710-w
- By:
- Publication type:
- Article
Heightened CXCR4 and CXCL12 expression in NF1-associated neurofibromas.
- Published in:
- Child's Nervous System, 2018, v. 34, n. 5, p. 877, doi. 10.1007/s00381-018-3745-6
- By:
- Publication type:
- Article
Gene Expression Patterns and Phenotypic Associations in Chondrogenesis: Insights into Skeletal Dysplasia Nosology.
- Published in:
- Osmangazi Journal of Medicine / Osmangazi Tip Dergisi, 2024, v. 46, n. 4, p. 570, doi. 10.20515/otd.1493433
- By:
- Publication type:
- Article
Neuronal conversion of dermal fibroblasts as a disease model.
- Published in:
- Cumhuriyet Medical Journal, 2018, v. 40, n. 4, p. 392, doi. 10.7197/223.vi.473259
- By:
- Publication type:
- Article
Small cell lung cancer stem cells display mesenchymal properties and exploit immune checkpoint pathways in activated cytotoxic T lymphocytes.
- Published in:
- Cancer Immunology, Immunotherapy, 2022, v. 71, n. 2, p. 445, doi. 10.1007/s00262-021-02998-1
- By:
- Publication type:
- Article
Transcriptome analysis reveals differentially expressed genes between human primary bone marrow mesenchymal stem cells and human primary dermal fibroblasts.
- Published in:
- Turkish Journal of Biology, 2019, v. 43, n. 1, p. 21, doi. 10.3906/biy-1808-81
- By:
- Publication type:
- Article
Transcriptome and proteome profiles of human umbilical cord vein CD146+ stem cells.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 5, p. 3833, doi. 10.1007/s11033-020-05474-8
- By:
- Publication type:
- Article
The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 6, p. 1091, doi. 10.24953/turkjped.2021.06.019
- By:
- Publication type:
- Article
Biomedical Efficacy of Garlic‐Extract‐Loaded Core‐Sheath Plasters for Natural Antimicrobial Wound Care.
- Published in:
- Macromolecular Materials & Engineering, 2024, v. 309, n. 9, p. 1, doi. 10.1002/mame.202400014
- By:
- Publication type:
- Article
Biomedical Efficacy of Garlic‐Extract‐Loaded Core‐Sheath Plasters for Natural Antimicrobial Wound Care.
- Published in:
- Macromolecular Materials & Engineering, 2024, v. 309, n. 9, p. 1, doi. 10.1002/mame.202400014
- By:
- Publication type:
- Article
CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 1, p. 1, doi. 10.1002/bdr2.2286
- By:
- Publication type:
- Article
Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
- Published in:
- Pediatric Diabetes, 2020, v. 21, n. 7, p. 1176, doi. 10.1111/pedi.13098
- By:
- Publication type:
- Article
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09915-6
- By:
- Publication type:
- Article
Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2116, doi. 10.1002/humu.24478
- By:
- Publication type:
- Article