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Showing results (71-80 of 79) with videos related to

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Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.
Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.
Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.
Journal of Medical Genetics|April 16, 2005
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancerT Frebourg, C Oliveira, P Hochain, et al.
Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
Pageof 8

Showing results (71-80 of 79) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 79 results.
Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.
Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.
Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.
Journal of Medical Genetics|April 16, 2005
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancerT Frebourg, C Oliveira, P Hochain, et al.
Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
Pageof 8