Found: 6
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Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3075, doi. 10.1002/ajmg.a.34300
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- Article
SOX10 mutation with peripheral amyelination and developmental disturbance of axons.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 2, p. 284, doi. 10.1002/mus.22262
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- Article
Zygotic-splitting after in vitro fertilization and prenatal parenthood testing after suspected embryo mix-up – a case report.
- Published in:
- International Journal of Legal Medicine, 2024, v. 138, n. 5, p. 2057, doi. 10.1007/s00414-024-03245-9
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- Article
Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 165, doi. 10.1515/jpem-2013-0090
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- Article
Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report.
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- Case Reports in Neurology, 2020, v. 12, n. 3, p. 466, doi. 10.1159/000511954
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- Article
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
- Published in:
- Human Mutation, 2006, v. 27, n. 9, p. 975, doi. 10.1002/humu.9449
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- Article