Found: 13
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De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay.
- Published in:
- Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19844920
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- Publication type:
- Article
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1436, doi. 10.1002/ajmg.a.38154
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- Publication type:
- Article
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1170, doi. 10.1002/ajmg.a.35267
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- Publication type:
- Article
Identification and Purification of Human Induced Pluripotent Stem Cell-Derived Atrial-Like Cardiomyocytes Based on Sarcolipin Expression.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101316
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- Publication type:
- Article
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0042-3
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- Publication type:
- Article
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.
- Published in:
- 2023
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- Publication type:
- Case Study
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
- Published in:
- Nature, 2010, v. 465, n. 7299, p. 808, doi. 10.1038/nature09005
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- Publication type:
- Article
Familial inheritance of the 3q29 microdeletion syndrome: case report and review.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0497-4
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- Publication type:
- Article
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.
- Published in:
- Nature Communications, 2015, v. 6, n. 4, p. 6955, doi. 10.1038/ncomms7955
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- Publication type:
- Article
Detection of unidentified chromosome abnormalities in human neuroblastoma by spectral karyotyping (SKY).
- Published in:
- Genes, Chromosomes & Cancer, 2001, v. 31, n. 3, p. 201, doi. 10.1002/gcc.1136
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- Publication type:
- Article
Characterization of karyotypic events and evolution in neuroblastoma.
- Published in:
- Pediatric Blood & Cancer, 2005, v. 44, n. 2, p. 147, doi. 10.1002/pbc.20179
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- Publication type:
- Article
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 587, doi. 10.1002/humu.22781
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- Publication type:
- Article
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 17, p. 3383, doi. 10.1093/hmg/ddq250
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- Publication type:
- Article