Publications by authors named "Yvan Herenger"

8Publications

Novel truncating mutations of causing congenital myopathy in a Swiss patient.

Neurol Genet 2020 Aug 9;6(4):e458. Epub 2020 Jun 9.

Department of Neurology (V.M., H.H.J.), University Hospital and University of Zurich; and Genetica (F.C., Y.H., R.S.), Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.

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August 2020

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients.

Mol Genet Metab Rep 2019 Sep 25;20:100498. Epub 2019 Jul 25.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France.

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September 2019

AnnotSV: an integrated tool for structural variations annotation.

Bioinformatics 2018 10;34(20):3572-3574

Laboratoire de Génétique Médicale, UMR_S INSERM U1112, IGMA, Faculté de Médecine FMTS, Université de Strasbourg, Strasbourg, France.

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October 2018

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Eur J Med Genet 2015 Sep 15;58(9):479-87. Epub 2015 Jul 15.

Laboratoire de Génétique Médicale INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine de Strasbourg, Université De Strasbourg, Strasbourg, France; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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September 2015

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Eur J Hum Genet 2014 Jun 30;22(6):776-83. Epub 2013 Oct 30.

1] IGBMC, CNRS UMR 7104/INSERM U964/University of Strasbourg, Illkirch Cedex, France [2] Chaire de Génétique Humaine, Collège de France, Paris, France [3] Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

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June 2014

New p22-phox monoclonal antibodies: identification of a conformational probe for cytochrome b 558.

J Innate Immun 2009 29;1(6):556-69. Epub 2009 Jul 29.

GREPI, TIMC-Imag UMR 5525 CNRS/Université Joseph Fourier, Laboratoire d'Enzymologie, CHU Grenoble, Grenoble, France.

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May 2010