Found: 4
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Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 432, doi. 10.1038/sj.ejhg.5201775
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- Publication type:
- Article
Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2012, v. 460, n. 6, p. 637, doi. 10.1007/s00428-012-1233-z
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- Publication type:
- Article
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
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- Publication type:
- Article
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
- Published in:
- Human Mutation, 2016, v. 37, n. 12, p. 1340, doi. 10.1002/humu.23063
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- Publication type:
- Article