Thomas Smol

Thomas Smol

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Thomas Smol

Thomas Smol

Publications by authors named "Thomas Smol"

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Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia.

Eur J Haematol 2019 Dec 1;103(6):607-613. Epub 2019 Oct 1.

Institut de Génétique Médicale, CHU de Lille, Lille, France.

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http://dx.doi.org/10.1111/ejh.13329DOI Listing
December 2019

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Eur J Med Genet 2019 Nov 12:103812. Epub 2019 Nov 12.

CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France; CHU Lille, Clinique de Génétique - Guy Fontaine, F-59000, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103812DOI Listing
November 2019

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

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 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

Comparison of IGH Profile Signals Using t(4;14) and IGH Break-Apart Probes by FISH in Multiple Myeloma.

Cytogenet Genome Res 2017 18;153(1):18-21. Epub 2017 Oct 18.

Institut de Génétique Médicale, CHRU Lille, Lille, France.

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http://dx.doi.org/10.1159/000481523DOI Listing
January 2018

Quantification of EVI1 transcript levels in acute myeloid leukemia by RT-qPCR analysis: A study by the ALFA Group.

Leuk Res 2015 Dec 9;39(12):1443-7. Epub 2015 Oct 9.

Hematology Laboratory, Biology and Pathology Center, CHRU of Lille, France; University of Lille Nord de France, Lille, France; UMR-S 1172, Team 3, Cancer Research Institute of Lille, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2015.09.021DOI Listing
December 2015