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Annales De Biologie Clinique|January 9, 2004
[Genetic study of holoprosencephaly]C Dubourg, L Lazaro, M Blayau, et al.European Journal of Human Genetics : EJHG|October 20, 2000
A new mutation in the six-domain of SIX3 gene causes holoprosencephalyL Pasquier, C Dubourg, M Blayau, et al.Human Mutation|March 27, 1999
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. OnlineC Dubourg, S Odent, P Fergelot, et al.Molecular Human Reproduction|December 2, 2000
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutationsP Jézéquel, C Dubourg, D Le Lannou, et al.Human Molecular Genetics|April 4, 2001
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombinationL Y Brown, S Odent, V David, et al.Journal of Medical Genetics|September 25, 2008
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?S Jaillard, C Dubourg, M Gérard-Blanluet, et al.American Journal of Medical Genetics. Part A|April 23, 2004
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehogLivia Garavelli, C Zanacca, G Caselli, et al.Journal of Medical Genetics|October 4, 2005
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeC Bendavid, B R Haddad, A Griffin, et al.Annales De Genetique|August 6, 1999
Gastric carcinoma in Sotos syndrome (cerebral gigantism)B Le Marec, L Pasquier, C Dugast, et al.Human Molecular Genetics|August 11, 1999
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephalyS Odent, T Atti-Bitach, M Blayau, et al.Pageof 44