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S Lyonnet

Showing results (141-150 of 223) with videos related to

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Kidney International|February 13, 2001
PAX2 mutations in oligomeganephroniaR Salomon, A L Tellier, T Attie-Bitach, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one alleleN Gregersen, V Winter, S Lyonnet, et al.
Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.
American Journal of Human Genetics|July 1, 1992
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in FranceS Lyonnet, D Melle, M de Braekeleer, et al.
European Journal of Medical Genetics|January 11, 2020
Fraser syndrome without cryptophthalmos: Two casesS Boussion, S Lyonnet, B Van Der Zwaag, et al.
Genomics|October 1, 1992
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52S Lyonnet, A Pelet, G Royer, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|April 1, 1994
[Mutations of RET proto-oncogene in Hirschsprung disease]S Lyonnet, P Edery, L M Mulligan, et al.
Nature|January 27, 1994
Mutations of the RET proto-oncogene in Hirschsprung's diseaseP Edery, S Lyonnet, L M Mulligan, et al.
Journal of Medical Genetics|March 10, 2001
A new case of exomphalos, short limbs, and macrogonadism syndromeG Viot, E Pannier, L Faivre, et al.
Molecular Genetics and Metabolism|March 22, 2003
Impaired mitochondrial pyruvate importation in a patient and a fetus at riskM Brivet, A Garcia-Cazorla, S Lyonnet, et al.
Pageof 23

Showing results (141-150 of 223) with videos related to

Sort By:
Pageof 23
Kidney International|February 13, 2001
PAX2 mutations in oligomeganephroniaR Salomon, A L Tellier, T Attie-Bitach, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one alleleN Gregersen, V Winter, S Lyonnet, et al.
Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.
American Journal of Human Genetics|July 1, 1992
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in FranceS Lyonnet, D Melle, M de Braekeleer, et al.
European Journal of Medical Genetics|January 11, 2020
Fraser syndrome without cryptophthalmos: Two casesS Boussion, S Lyonnet, B Van Der Zwaag, et al.
Genomics|October 1, 1992
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52S Lyonnet, A Pelet, G Royer, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|April 1, 1994
[Mutations of RET proto-oncogene in Hirschsprung disease]S Lyonnet, P Edery, L M Mulligan, et al.
Nature|January 27, 1994
Mutations of the RET proto-oncogene in Hirschsprung's diseaseP Edery, S Lyonnet, L M Mulligan, et al.
Journal of Medical Genetics|March 10, 2001
A new case of exomphalos, short limbs, and macrogonadism syndromeG Viot, E Pannier, L Faivre, et al.
Molecular Genetics and Metabolism|March 22, 2003
Impaired mitochondrial pyruvate importation in a patient and a fetus at riskM Brivet, A Garcia-Cazorla, S Lyonnet, et al.
Pageof 23