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Journal of Medical Genetics
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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-oncogene
P 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 disease
A 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 disease
T Attie, A Pelet, P Sarda, et al.
The EMBO Journal
|
August 2, 2000
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
M 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 disease
N 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 failure
P 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 loss
L Morlé, M Bozon, N Alloisio, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 54) with videos related to
Sort By:
Page
of 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-oncogene
P 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 disease
A 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 disease
T Attie, A Pelet, P Sarda, et al.
The EMBO Journal
|
August 2, 2000
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
M 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 disease
N 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 failure
P 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 loss
L Morlé, M Bozon, N Alloisio, et al.
Page
of 6