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Journal of Molecular Endocrinology|April 6, 2006
Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 geneMichel Crépin, Pascal Pigny, Fabienne Escande, et al.
World Journal of Gastroenterology|February 21, 2008
Frequent mutations of the CA simple sequence repeat in intron 1 of EGFR in mismatch repair-deficient colorectal cancersMarie-Pierre Buisine, Agnes Wacrenier, Christophe Mariette, et al.
Human Mutation|September 29, 2011
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibilityMichel Crépin, Marie-Claire Dieu, Sophie Lejeune, et al.
Annals of Clinical and Translational Neurology|April 25, 2015
Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytomaAudrey Hochart, Fabienne Escande, Nathalie Rocourt, et al.
Therapeutic Advances in Medical Oncology|September 18, 2023
Pursuit or discontinuation of anti-PD1 after 2 years of treatment in long-term responder patients with non-small cell lung cancerCamille Ardin, Sarah Humez, Vincent Leroy, et al.
European Journal of Medical Genetics|December 4, 2012
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesisFlorence Petit, Joris Andrieux, Bénédicte Demeer, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosisFlorence Petit, Anne-Sophie Jourdain, Muriel Holder-Espinasse, et al.
Developmental Medicine and Child Neurology|December 3, 2008
Neurological aspects of hyperinsulinism-hyperammonaemia syndromeNadia Bahi-Buisson, Emmanuel Roze, Carlo Dionisi, et al.
American Journal of Medical Genetics. Part A|May 4, 2019
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literaturePerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
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