Radu Harbuz

Radu Harbuz

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Radu Harbuz

Radu Harbuz

Publications by authors named "Radu Harbuz"

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Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Eur J Med Genet 2016 Sep 21;59(9):483-7. Epub 2016 Jul 21.

Service de Génétique, Centre de Référence Anomalies du Développement Ouest, CHU de Poitiers, France; EA 3808, Université de Poitiers, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.07.001DOI Listing
September 2016

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Ann Neurol 2014 Nov 4;76(5):758-64. Epub 2014 Oct 4.

Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ana.24274DOI Listing
November 2014

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.

Am J Med Genet A 2013 Oct 15;161A(10):2504-11. Epub 2013 Aug 15.

Service de Génétique, Centre Hospitalier Universitaire, Poitiers, France; Equipe de Génétique de Maladies Rares, Université de Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.a.36122DOI Listing
October 2013

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

Mol Hum Reprod 2011 Dec 6;17(12):762-8. Epub 2011 Jul 6.

Laboratoire AGIM, FRE 3405 CNRS - UJF, Equipe Génétique Infertilité et Thérapeutique (GIT), campus santé de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1093/molehr/gar050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639514PMC
December 2011

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Prenat Diagn 2010 Nov;30(11):1072-8

Département de Génétique et Procréation, CHU de Grenoble, France.

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http://dx.doi.org/10.1002/pd.2613DOI Listing
November 2010