Stephen Hellens
Overview
Explore the profile of Stephen Hellens including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
2
Citations
162
Followers
0
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Related Specialty
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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...