Helen Puusepp-Benazzouz - Tartu University Hospital

Helen Puusepp-Benazzouz

Tartu University Hospital

Helen Puusepp-Benazzouz - Tartu University Hospital

Helen Puusepp-Benazzouz

Introduction

Primary Affiliation: Tartu University Hospital

Publications

2Publications

141Reads

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10PubMed Central Citations

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014
105 Reads
5 Citations
1.490 Impact Factor

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

Eur J Med Genet 2012 Mar 21;55(3):178-84. Epub 2012 Jan 21.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.004DOI Listing
March 2012
36 Reads
5 Citations
1.490 Impact Factor