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Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 387, doi. 10.1002/ajmg.c.31661
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- Article
Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1148, doi. 10.1002/ajmg.a.35827
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- Article
Analysis of aneuploidy for chromosomes 13, 21, X and Y by multicolour fluorescence in situ hybridisation (FISH) in a 47,XYY male.
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- Zygote, 1999, v. 7, n. 2, p. 131, doi. 10.1017/s0967199499000489
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- Article