Found: 20
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Whole-exome sequencing reveals the subclonal expression of NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
- Published in:
- Pediatrics International, 2020, v. 62, n. 5, p. 556, doi. 10.1111/ped.14159
- By:
- Publication type:
- Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1349, doi. 10.1002/ajmg.a.37002
- By:
- Publication type:
- Article
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 389, doi. 10.1002/ajmg.a.36813
- By:
- Publication type:
- Article
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36704
- By:
- Publication type:
- Article
Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2104, doi. 10.1002/ajmg.a.36604
- By:
- Publication type:
- Article
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1550, doi. 10.1002/ajmg.a.36477
- By:
- Publication type:
- Article
Pure duplication of 19p13.3.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2300, doi. 10.1002/ajmg.a.36041
- By:
- Publication type:
- Article
Expressed Sequence Tags from Immature Female Sexual Organ of a Liverwort, Marchantia polymorpha.
- Published in:
- DNA Research, 1999, v. 6, n. 1, p. 1, doi. 10.1093/dnares/6.1.1
- By:
- Publication type:
- Article
Using the in vitro drug sensitivity test to identify candidate treatments for transient abnormal myelopoiesis.
- Published in:
- British Journal of Haematology, 2022, v. 196, n. 3, p. 764, doi. 10.1111/bjh.17970
- By:
- Publication type:
- Article
DNA Elements Reducing Transcriptional Gene Silencing Revealed by a Novel Screening Strategy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054670
- By:
- Publication type:
- Article
Biases and regularities of grapheme–colour associations in Japanese nonsynaesthetic population.
- Published in:
- Quarterly Journal of Experimental Psychology, 2016, v. 69, n. 1, p. 11, doi. 10.1080/17470218.2015.1018835
- By:
- Publication type:
- Article
17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability.
- Published in:
- Congenital Anomalies, 2019, v. 59, n. 2, p. 51, doi. 10.1111/cga.12292
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- Publication type:
- Article
Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 6, p. 191, doi. 10.1111/cga.12277
- By:
- Publication type:
- Article
Negative priming and stimulus familiarity: What causes opposite results?
- Published in:
- Memory & Cognition, 2003, v. 31, n. 3, p. 369, doi. 10.3758/BF03194395
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- Publication type:
- Article
Inactivation of O<sup>6</sup>-Methylguanine-DNA Methyltransferase in Human Lung Adenocarcinoma Relates to High-grade Histology and Worse Prognosis among Smokers.
- Published in:
- Cancer Science, 2002, v. 93, n. 2, p. 184, doi. 10.1111/j.1349-7006.2002.tb01257.x
- By:
- Publication type:
- Article
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0067-5
- By:
- Publication type:
- Article
Establishment and characterization of a novel MDM2/MYCN-co-amplified neuroblastoma cell line, NBN-SHIM, established from a late recurrent stage MS tumor.
- Published in:
- Human Cell, 2024, v. 37, n. 5, p. 1602, doi. 10.1007/s13577-024-01106-6
- By:
- Publication type:
- Article
A short-term three dimensional culture-based drug sensitivity test is feasible for malignant bone tumors.
- Published in:
- Human Cell, 2023, v. 36, n. 6, p. 2152, doi. 10.1007/s13577-023-00982-8
- By:
- Publication type:
- Article