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Birth Defects Research. Part A, Clinical and Molecular Teratology|June 28, 2016
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardationCarole Goumy, Mathilde Gay-Bellile, Gaelle Salaun, et al.
BMC Medical Genomics|July 13, 2023
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literatureMathias Cavaillé, Delphine Crampon, Viorel Achim, et al.
Hereditary Cancer in Clinical Practice|March 13, 2019
BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancerFabrice Kwiatkowski, Mathilde Gay-Bellile, Pascal Dessenne, et al.
Oncotarget|November 5, 2017
TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancerMathilde Gay-Bellile, Lauren Véronèse, Patricia Combes, et al.
BMC Medical Genetics|September 3, 2015
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher diseaseJulien Masliah-Planchon, Céline Dupont, George Vartzelis, et al.
International Journal of Cancer|June 12, 2025
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratoriesEdwige Kasper, Flavie Boulouard, Noémie Basset, et al.
Annales D'Endocrinologie|May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.
Annales D'Endocrinologie|March 21, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.
American Journal of Human Genetics|October 1, 2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachSandrine M Caputo, Lisa Golmard, Mélanie Léone, et al.
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