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Stephen Hellens

Explore the profile of Stephen Hellens including associated specialties, affiliations and a list of published articles. Areas
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Citations 162
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Recent Articles
1.
Mandrile G, Dubois A, Hoffman J, Uliana V, Di Maria E, Malacarne M, et al.
Eur J Med Genet . 2013 Jan; 56(4):216-21. PMID: 23357683
We describe three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion who share common clinical features: neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper...
2.
Soemedi R, Wilson I, Bentham J, Darlay R, Topf A, Zelenika D, et al.
Am J Hum Genet . 2012 Sep; 91(3):489-501. PMID: 22939634
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart...