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L Pasquier

Showing results (31-40 of 37) with videos related to

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Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.
Clinical Genetics|June 25, 2013
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new familiesF Petit, A-S Jourdain, J Andrieux, et al.
Clinical Genetics|July 15, 2017
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patientsE Chérot, B Keren, C Dubourg, et al.
Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.
Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.
Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.
Clinical Genetics|June 25, 2013
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new familiesF Petit, A-S Jourdain, J Andrieux, et al.
Clinical Genetics|July 15, 2017
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patientsE Chérot, B Keren, C Dubourg, et al.
Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.
Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.
Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Pageof 4