Results
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1.
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Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. [electronic resource] by
- Pelet, A
- de Pontual, L
- Clément-Ziza, M
- Salomon, R
- Mugnier, C
- Matsuda, F
- Lathrop, M
- Munnich, A
- Feingold, J
- Lyonnet, S
- Abel, L
- Amiel, J
Producer: 20060331
In:
Journal of medical genetics vol. 42
Availability: No items available.
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2.
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. [electronic resource] by
- de Pontual, L
- Pelet, A
- Clement-Ziza, M
- Trochet, D
- Antonarakis, S E
- Attie-Bitach, T
- Beales, P L
- Blouin, J-L
- Dastot-Le Moal, F
- Dollfus, H
- Goossens, M
- Katsanis, N
- Touraine, R
- Feingold, J
- Munnich, A
- Lyonnet, S
- Amiel, J
Producer: 20070829
In:
Human mutation vol. 28
Availability: No items available.
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3.
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Hirschsprung disease, associated syndromes and genetics: a review. [electronic resource] by
- Amiel, J
- Sproat-Emison, E
- Garcia-Barcelo, M
- Lantieri, F
- Burzynski, G
- Borrego, S
- Pelet, A
- Arnold, S
- Miao, X
- Griseri, P
- Brooks, A S
- Antinolo, G
- de Pontual, L
- Clement-Ziza, M
- Munnich, A
- Kashuk, C
- West, K
- Wong, K K-Y
- Lyonnet, S
- Chakravarti, A
- Tam, P K-H
- Ceccherini, I
- Hofstra, R M W
- Fernandez, R
Producer: 20080122
In:
Journal of medical genetics vol. 45
Availability: No items available.
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4.
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. [electronic resource] by
- Sanlaville, D
- Etchevers, H C
- Gonzales, M
- Martinovic, J
- Clément-Ziza, M
- Delezoide, A-L
- Aubry, M-C
- Pelet, A
- Chemouny, S
- Cruaud, C
- Audollent, S
- Esculpavit, C
- Goudefroye, G
- Ozilou, C
- Fredouille, C
- Joye, N
- Morichon-Delvallez, N
- Dumez, Y
- Weissenbach, J
- Munnich, A
- Amiel, J
- Encha-Razavi, F
- Lyonnet, S
- Vekemans, M
- Attié-Bitach, T
Producer: 20060809
In:
Journal of medical genetics vol. 43
Availability: No items available.
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