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L Faivre

Showing results (81-90 of 131) with videos related to

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JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.
Clinical Genetics|March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephalyA-L Bruel, J Thevenon, F Huet, et al.
Human Mutation|July 29, 2011
GLI3 is rarely implicated in OFD syndromes with midline abnormalitiesM Avila, N Gigot, B Aral, et al.
Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, 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.
European Journal of Cancer (Oxford, England : 1990)|June 16, 2017
Phase I study of temsirolimus in combination with cetuximab in patients with advanced solid tumoursA Hollebecque, R Bahleda, L Faivre, et al.
European Journal of Medical Genetics|July 3, 2019
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectivesF Houdayer, O Putois, M L Babonneau, et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico|August 20, 2015
Familial hematological malignancies: ASXL1 gene investigationW S Hamadou, R E Abed, S Besbes, et al.
Clinical Genetics|April 23, 2016
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotypingJ S Amos, L Huang, J Thevenon, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndromeA Bourchany, I Giurgea, J Thevenon, et al.
Pageof 14

Showing results (81-90 of 131) with videos related to

Sort By:
Pageof 14
JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.
Clinical Genetics|March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephalyA-L Bruel, J Thevenon, F Huet, et al.
Human Mutation|July 29, 2011
GLI3 is rarely implicated in OFD syndromes with midline abnormalitiesM Avila, N Gigot, B Aral, et al.
Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, 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.
European Journal of Cancer (Oxford, England : 1990)|June 16, 2017
Phase I study of temsirolimus in combination with cetuximab in patients with advanced solid tumoursA Hollebecque, R Bahleda, L Faivre, et al.
European Journal of Medical Genetics|July 3, 2019
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectivesF Houdayer, O Putois, M L Babonneau, et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico|August 20, 2015
Familial hematological malignancies: ASXL1 gene investigationW S Hamadou, R E Abed, S Besbes, et al.
Clinical Genetics|April 23, 2016
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotypingJ S Amos, L Huang, J Thevenon, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndromeA Bourchany, I Giurgea, J Thevenon, et al.
Pageof 14