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L Pasquier

Showing results (11-20 of 37) with videos related to

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European Journal of Human Genetics : EJHG|October 20, 2000
A new mutation in the six-domain of SIX3 gene causes holoprosencephalyL Pasquier, C Dubourg, M Blayau, et al.
Journal of Medical Genetics|January 7, 2005
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutationsL Pasquier, C Dubourg, M Gonzales, et al.
Journal of Assisted Reproduction and Genetics|November 13, 2014
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosisS Jaillard, A Bashamboo, L Pasquier, et al.
The British Journal of Dermatology|November 25, 2003
Extensive cutaneous herpes following meningococcal meningitis: two casesT Passeron, P Imbert, P Colbacchini, et al.
Clinical Genetics|December 25, 2004
Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1P Amati-Bonneau, L Pasquier, E Lainey, et al.
Clinical Genetics|November 21, 2013
Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformationsF Riant, S Odent, M Cecillon, et al.
Journal of Radiological Protection : Official Journal of the Society for Radiological Protection|January 9, 2013
The assessment and management of risks associated with exposures to short-range Auger- and beta-emitting radionuclides. State of the art and proposals for lines of researchF Paquet, P Barbey, M Bardiès, et al.
Diabetes & Metabolism|November 5, 2004
Aldosterone and anti-aldosterone effects in cardiovascular diseases and diabetic nephropathyM L Ambroisine, P Milliez, J Nehme, et al.
Clinical Genetics|July 6, 2005
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutationM Gonzales, S Heuertz, J Martinovic, et al.
European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|October 20, 2000
A new mutation in the six-domain of SIX3 gene causes holoprosencephalyL Pasquier, C Dubourg, M Blayau, et al.
Journal of Medical Genetics|January 7, 2005
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutationsL Pasquier, C Dubourg, M Gonzales, et al.
Journal of Assisted Reproduction and Genetics|November 13, 2014
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosisS Jaillard, A Bashamboo, L Pasquier, et al.
The British Journal of Dermatology|November 25, 2003
Extensive cutaneous herpes following meningococcal meningitis: two casesT Passeron, P Imbert, P Colbacchini, et al.
Clinical Genetics|December 25, 2004
Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1P Amati-Bonneau, L Pasquier, E Lainey, et al.
Clinical Genetics|November 21, 2013
Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformationsF Riant, S Odent, M Cecillon, et al.
Journal of Radiological Protection : Official Journal of the Society for Radiological Protection|January 9, 2013
The assessment and management of risks associated with exposures to short-range Auger- and beta-emitting radionuclides. State of the art and proposals for lines of researchF Paquet, P Barbey, M Bardiès, et al.
Diabetes & Metabolism|November 5, 2004
Aldosterone and anti-aldosterone effects in cardiovascular diseases and diabetic nephropathyM L Ambroisine, P Milliez, J Nehme, et al.
Clinical Genetics|July 6, 2005
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutationM Gonzales, S Heuertz, J Martinovic, et al.
European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.
Pageof 4