Publication: Baraitser-winter syndrome in a boy with heterozygous missense mutation in the ACTB gene
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Date
2018-10-01
Authors
Authors
Temel, Şehime Gülsün
Ekmekçi, G.
Yenmiş, G.
Kiper, P. O. Şimşek
Alanay, Y.
Journal Title
Journal ISSN
Volume Title
Publisher
Nature Publishing Group
Abstract
Description
Bu çalışma, 27-30, Mayıs 2017 tarihlerinde Copenhagen[Danimarka]’da düzenlenen 50. European-Society-of-Human-Genetics (ESHG) Conference Kongresi‘nde bildiri olarak sunulmuştur.
Keywords
Science & technology, Life sciences & biomedicine, Biochemistry & molecular biology, Genetics & heredity