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S Lyonnet

Showing results (131-140 of 223) with videos related to

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The Journal of Biological Chemistry|May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuriaC Caillaud, S Lyonnet, F Rey, et al.
Clinical Genetics|July 3, 1998
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndromeG Viot-Szoboszlai, J Amiel, F Doz, et al.
American Journal of Human Genetics|December 1, 1988
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in FranceF Rey, M Berthelon, C Caillaud, et al.
American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.
Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.
Human Molecular Genetics|April 1, 1994
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus familyP Coucke, L Vits, G Van Camp, et al.
Human Genetics|April 1, 1992
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in PortugalC Caillaud, L Vilarinho, A Vilarinho, et al.
Gastroenterologie Clinique Et Biologique|January 1, 1997
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]C Bidaud, R Salomon, P Edery, et al.
Pageof 23

Showing results (131-140 of 223) with videos related to

Sort By:
Pageof 23
The Journal of Biological Chemistry|May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuriaC Caillaud, S Lyonnet, F Rey, et al.
Clinical Genetics|July 3, 1998
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndromeG Viot-Szoboszlai, J Amiel, F Doz, et al.
American Journal of Human Genetics|December 1, 1988
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in FranceF Rey, M Berthelon, C Caillaud, et al.
American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.
Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.
Human Molecular Genetics|April 1, 1994
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus familyP Coucke, L Vits, G Van Camp, et al.
Human Genetics|April 1, 1992
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in PortugalC Caillaud, L Vilarinho, A Vilarinho, et al.
Gastroenterologie Clinique Et Biologique|January 1, 1997
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]C Bidaud, R Salomon, P Edery, et al.
Pageof 23