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L Faivre

Showing results (71-80 of 131) with videos related to

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Clinical Genetics|April 23, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesisA-L Bruel, A Masurel-Paulet, J-B Rivière, et al.
Clinical Genetics|November 19, 2016
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosisM Lefebvre, Y Duffourd, T Jouan, et al.
The British Journal of Dermatology|April 21, 2016
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevusP Kuentz, S Fraitag, M Gonzales, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 geneA Orrico, L Galli, L Faivre, et al.
Familial Cancer|September 5, 2009
Molecular study of CEBPA in familial hematological malignanciesR El Abed, V Bourdon, L Huiart, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 5, 2008
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrumC Thauvin-Robinet, E Roze, G Couvreur, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.
Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.
Pageof 14

Showing results (71-80 of 131) with videos related to

Sort By:
Pageof 14
Clinical Genetics|April 23, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesisA-L Bruel, A Masurel-Paulet, J-B Rivière, et al.
Clinical Genetics|November 19, 2016
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosisM Lefebvre, Y Duffourd, T Jouan, et al.
The British Journal of Dermatology|April 21, 2016
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevusP Kuentz, S Fraitag, M Gonzales, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 geneA Orrico, L Galli, L Faivre, et al.
Familial Cancer|September 5, 2009
Molecular study of CEBPA in familial hematological malignanciesR El Abed, V Bourdon, L Huiart, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 5, 2008
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrumC Thauvin-Robinet, E Roze, G Couvreur, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.
Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.
Pageof 14