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European Journal of Medical Genetics|August 10, 2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delayStéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, et al.
Genes|November 25, 2023
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney CancerZangbéwendé Guy Ouedraogo, Florian Ceruti, Mathis Lepage, et al.
Clinical Genetics|October 13, 2020
Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancersMathias Cavaillé, Nancy Uhrhammer, Maud Privat, et al.
Optics Express|December 10, 2009
170 Gbit/s transmission in an erbium-doped waveguide amplifier on siliconJonathan D B Bradley, Marcia Costa e Silva, Mathilde Gay, et al.
Optics Letters|March 2, 2021
Narrow linewidth near-UV InGaN laser diode based on external cavity fiber Bragg gratingAntoine Congar, Mathilde Gay, Georges Perin, et al.
Optics Express|November 13, 2009
Self-phase-modulation-based 2R regenerator including pulse compression and offset filtering for 42.6 Gbit/s RZ-33% transmission systemsThanh Nam Nguyen, Thierry Chartier, Laurent Bramerie, et al.
Genes|September 28, 2023
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the LiteratureMathis Lepage, Nancy Uhrhammer, Maud Privat, et al.
Genes, Chromosomes & Cancer|October 25, 2020
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predispositionMathias Cavaillé, Nancy Uhrhammer, Maud Privat, et al.
Human Mutation|April 14, 2025
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic DiagnosisMaud Privat, Flora Ponelle-Chachuat, Sandrine Viala, 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.
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