Publications by authors named "Tina Barbaro-Dieber"

6Publications

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Am J Med Genet A 2017 Jul 30;173(7):1896-1902. Epub 2017 Apr 30.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38124DOI Listing
July 2017