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S Lyonnet

Showing results (121-130 of 223) with videos related to

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American Journal of Medical Genetics. Part A|March 14, 2007
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphismC Crétolle, S Sarnacki, J Amiel, et al.
The Journal of Clinical Investigation|April 29, 1998
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's diseaseA Pelet, O Geneste, P Edery, et al.
American Journal of Human Genetics|April 17, 1999
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicismA Kara-Mostefa, O Raoul, S Lyonnet, et al.
American Journal of Medical Genetics|March 13, 1995
Upper limb malformations in DiGeorge syndromeV Cormier-Daire, L Iserin, D Théophile, et al.
Human Molecular Genetics|August 1, 1994
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's diseaseT Attie, A Pelet, P Sarda, et al.
Archives Francaises De Pediatrie|October 1, 1992
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]F Rey, V Abadie, S Lyonnet, et al.
Nature Genetics|August 1, 1993
A duplication in the L1CAM gene associated with X-linked hydrocephalusG Van Camp, L Vits, P Coucke, et al.
Genomics|November 1, 1989
CpG dinucleotides are mutation hot spots in phenylketonuriaV Abadie, S Lyonnet, N Maurin, et al.
European Journal of Pediatrics|September 1, 2000
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural developmentV Abadie, S Wiener-Vacher, M P Morisseau-Durand, et al.
Nature Genetics|April 1, 1996
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)P Edery, T Attié, J Amiel, et al.
Pageof 23

Showing results (121-130 of 223) with videos related to

Sort By:
Pageof 23
American Journal of Medical Genetics. Part A|March 14, 2007
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphismC Crétolle, S Sarnacki, J Amiel, et al.
The Journal of Clinical Investigation|April 29, 1998
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's diseaseA Pelet, O Geneste, P Edery, et al.
American Journal of Human Genetics|April 17, 1999
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicismA Kara-Mostefa, O Raoul, S Lyonnet, et al.
American Journal of Medical Genetics|March 13, 1995
Upper limb malformations in DiGeorge syndromeV Cormier-Daire, L Iserin, D Théophile, et al.
Human Molecular Genetics|August 1, 1994
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's diseaseT Attie, A Pelet, P Sarda, et al.
Archives Francaises De Pediatrie|October 1, 1992
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]F Rey, V Abadie, S Lyonnet, et al.
Nature Genetics|August 1, 1993
A duplication in the L1CAM gene associated with X-linked hydrocephalusG Van Camp, L Vits, P Coucke, et al.
Genomics|November 1, 1989
CpG dinucleotides are mutation hot spots in phenylketonuriaV Abadie, S Lyonnet, N Maurin, et al.
European Journal of Pediatrics|September 1, 2000
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural developmentV Abadie, S Wiener-Vacher, M P Morisseau-Durand, et al.
Nature Genetics|April 1, 1996
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)P Edery, T Attié, J Amiel, et al.
Pageof 23