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Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 5, p. 388, doi. 10.1034/j.1399-0004.2000.570510.x
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- Article
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 180, doi. 10.1002/ajmg.a.36790
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- Publication type:
- Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
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- Article