Delphine Dupin-Deguine

Delphine Dupin-Deguine

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Delphine Dupin-Deguine

Delphine Dupin-Deguine

Publications by authors named "Delphine Dupin-Deguine"

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Clin Genet 2019 Oct 18;96(4):317-329. Epub 2019 Jul 18.

APHP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié- Salpêtrière- Charles Foix, Paris, France.

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http://dx.doi.org/10.1111/cge.13594DOI Listing
October 2019

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017

A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).

Hemoglobin 2011 ;35(2):157-61

Laboratory of Biochemistry and Molecular Genetics, Henri Mondor Hospital (APHP), Creteil, France.

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http://dx.doi.org/10.3109/03630269.2011.557460DOI Listing
August 2011