Publications by authors named "Frances L Raymond"

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Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Aishin Lok, Miguel A Fernandez-Garcia, Robert W Taylor, Courtney French, Robert MacFarland, Frances Lucy Raymond

Am J Med Genet A· September 2022

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Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
Belén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, Luca Stefanucci, José Padilla, Frances Lucy Raymond

Thromb Haemost· August 2022

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Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients?
The-Hung Bui, Frances Lucy Raymond, Ignatia B Van den Veyver

Prenat Diagn· January 2014

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Isolated hypoglossal schwannoma in a 9-year-old child.
Thomas Santarius, Srikanth Dakoji, Fardad T Afshari, Frances L Raymond, Helen V Firth

J Neurosurg Pediatr· August 2012

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'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care.
Angus J Clarke, David N Cooper, Michael Krawczak, Chris Tyler-Smith, Helen M Wallace, Frances Lucy Raymond

Hum Genomics· August 2012

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