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De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 676, doi. 10.1002/ajmg.a.36340
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Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 441, doi. 10.1002/ajmg.a.36320
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- Publication type:
- Article