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P Edery

Showing results (21-30 of 54) with videos related to

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Journal of Medical Genetics|July 31, 2001
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?P Edery, F Le Deist, M L Briard, et al.
Human Genetics|November 1, 1994
A novel polymorphism in the coding sequence of the human RET proto-oncogeneP Edery, T Attié, L M Mulligan, et al.
Annales De Chirurgie|January 1, 1996
[Genetics of Hirschsprung disease]T Attié, J Amiel, D Jan, 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.
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.
The EMBO Journal|August 2, 2000
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung diseaseM C Bordeaux, C Forcet, L Granger, et al.
Clinical Genetics|January 17, 2017
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's diseaseN Chatron, G Lesca, A Labalme, et al.
European Journal of Pediatrics|March 1, 1994
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failureP Edery, B Gérard, D Chretien, 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.
Journal of Medical Genetics|May 12, 2000
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing lossL Morlé, M Bozon, N Alloisio, et al.
Pageof 6

Showing results (21-30 of 54) with videos related to

Sort By:
Pageof 6
Journal of Medical Genetics|July 31, 2001
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?P Edery, F Le Deist, M L Briard, et al.
Human Genetics|November 1, 1994
A novel polymorphism in the coding sequence of the human RET proto-oncogeneP Edery, T Attié, L M Mulligan, et al.
Annales De Chirurgie|January 1, 1996
[Genetics of Hirschsprung disease]T Attié, J Amiel, D Jan, 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.
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.
The EMBO Journal|August 2, 2000
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung diseaseM C Bordeaux, C Forcet, L Granger, et al.
Clinical Genetics|January 17, 2017
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's diseaseN Chatron, G Lesca, A Labalme, et al.
European Journal of Pediatrics|March 1, 1994
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failureP Edery, B Gérard, D Chretien, 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.
Journal of Medical Genetics|May 12, 2000
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing lossL Morlé, M Bozon, N Alloisio, et al.
Pageof 6