Julie Soblet

Julie Soblet

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Julie Soblet

Julie Soblet

Publications by authors named "Julie Soblet"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

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

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

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

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

Am J Med Genet A 2018 01 27;176(1):201-208. Epub 2017 Sep 27.

Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765401PMC
January 2018

Common and specific effects of TIE2 mutations causing venous malformations.

Hum Mol Genet 2015 Nov 28;24(22):6374-89. Epub 2015 Aug 28.

Oulu Center for Cell-Matrix Research, Biocenter Oulu and Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland,

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http://dx.doi.org/10.1093/hmg/ddv349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614705PMC
November 2015

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

Hum Mol Genet 2013 Sep 30;22(17):3438-48. Epub 2013 Apr 30.

Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, 1200 Brussels, Belgium.

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http://dx.doi.org/10.1093/hmg/ddt198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736867PMC
September 2013