Publications by authors named "Catherine Bloch"

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Catherine Bloch

J Med Genet· December 2017

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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Asif Ali, Paul T Christie, Irina V Grigorieva, Brian Harding, Hilde Van Esch, Catherine Bloch

Hum Mol Genet· February 2007

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Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
Houda Karmous-Benailly, Fabienne Giuliano, Christophe Massol, Catherine Bloch, Dominique De Ricaud

Eur J Med Genet· November 2006

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