Publications by authors named "Urielle Ullmann"

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ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Urielle Ullmann, Luigi D'Argenzio, Shrey Mathur, Tamieka Whyte, Ros Quinlivan

Neuromuscul Disord· September 2018

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Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Urielle Ullmann

Brain· January 2018

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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Urielle Ullmann

Brain· June 2017

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Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
Samuel Balbeur, Bernard Grisart, Benoit Parmentier, Daniel Sartenaer, Pierre-Emmanuel Leonard, Urielle Ullmann

Clin Case Rep· March 2016

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A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
Urielle Ullmann, David Unuane, Brigitte Velkeniers, Willy Lissens, Wim Wuyts

Eur J Hum Genet· June 2013

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Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time.
Sara Seneca, Willy Lissens, Kristof Endels, Ben Caljon, Maryse Bonduelle, Urielle Ullmann

J Mol Diagn· November 2012

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