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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8086, doi. 10.1038/ncomms9086
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- Article
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166
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- Article
An atypical case of hypomethylation at multiple imprinted loci.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218
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- Article
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 648, doi. 10.1038/ejhg.2009.246
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- Article
A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1001000
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- Article
SING & GROW: THE CO-EXISTENCE OF EVALUATION RESEARCH AND CLINICAL PRACTICE IN AN EARLY INTERVENTION MUSIC THERAPY PROJECT.
- Published in:
- New Zealand Journal of Music Therapy, 2007, n. 5, p. 5
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- Article
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2174, doi. 10.1002/ajmg.a.36049
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- Article
Reclaiming 'Strengths-Based' from Pop Psychology.
- Published in:
- Australian Journal of Music Therapy, 2022, v. 33, n. 2, p. 72
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- Article
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
- Published in:
- 2013
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- Publication type:
- journal article
Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci.
- Published in:
- Diabetes Care, 2013, v. 36, n. 3, p. 505, doi. 10.2337/dc12-0700
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- Publication type:
- Article