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American Journal of Medical Genetics. Part A|December 15, 2012
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndromeAnne Debost-Legrand, Eleonore Eymard-Pierre, Céline Pebrel-Richard, et al.
Cancer Genetics|January 15, 2013
Contribution of MLPA to routine diagnostic testing of recurrent genomic aberrations in chronic lymphocytic leukemiaLauren Véronèse, Olivier Tournilhac, Patricia Combes, et al.
Clinical Chemistry and Laboratory Medicine|June 16, 2010
Increased expression of the oncogenic KLF6-SV1 transcript in human glioblastomaAndrei Tchirkov, Vincent Sapin, Geoffroy Marceau, et al.
Cytogenetic and Genome Research|July 24, 2015
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal KaryotypeLaetitia Gouas, Stéphan Kémény, Anne-Marie Beaufrère, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndromeCarole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 23, 2014
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palateCarole Goumy, Mathilde Gay-Bellile, Eléonore Eymard-Pierre, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, et al.
Human Molecular Genetics|March 4, 2022
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?Carole Goumy, Lauren Veronese, Rodrigue Stamm, et al.
Leukemia Research|June 3, 2009
Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemiaLauren Véronèse, Olivier Tournilhac, Pierre Verrelle, et al.
The Journal of Pathology. Clinical Research|October 28, 2016
ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosisMathilde Gay-Bellile, Pierre Romero, Anne Cayre, et al.
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