Found: 7
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Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1773, doi. 10.1002/mds.23639
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- Publication type:
- Article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00841-x
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- Publication type:
- Article
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1171, doi. 10.1038/ejhg.2014.249
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- Publication type:
- Article
Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 681, doi. 10.1111/cge.14303
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- Publication type:
- Article
Chromosome microarray in Australia: A guide for paediatricians.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 2, p. E59, doi. 10.1111/j.1440-1754.2011.02081.x
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- Publication type:
- Article
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 7, p. 618, doi. 10.1111/j.1469-8749.2012.04287.x
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- Publication type:
- Article
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
- Published in:
- 2008
- By:
- Publication type:
- journal article