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Louis Mandel

Showing results (191-200 of 221) with videos related to

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Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
American Journal of Medical Genetics. Part A|June 4, 2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeAlice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
American Journal of Human Genetics|January 17, 2003
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin, W Ted Brown, Anne Glicksman, et al.
American Journal of Human Genetics|March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagyMeghna Kannan, Efil Bayam, Christel Wagner, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.
Pageof 23

Showing results (191-200 of 221) with videos related to

Sort By:
Pageof 23
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
American Journal of Medical Genetics. Part A|June 4, 2016
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeAlice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
American Journal of Human Genetics|January 17, 2003
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin, W Ted Brown, Anne Glicksman, et al.
American Journal of Human Genetics|March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagyMeghna Kannan, Efil Bayam, Christel Wagner, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.
Pageof 23