Results
|
|
141.
|
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. [electronic resource] by
- Le Merrer, M
- Rousseau, F
- Legeai-Mallet, L
- Landais, J C
- Pelet, A
- Bonaventure, J
- Sanak, M
- Weissenbach, J
- Stoll, C
- Munnich, A
Producer: 19940725
In:
Nature genetics vol. 6
Availability: No items available.
|
|
|
142.
|
A gene for hereditary multiple exostoses maps to chromosome 19p. [electronic resource] by
- Le Merrer, M
- Legeai-Mallet, L
- Jeannin, P M
- Horsthemke, B
- Schinzel, A
- Plauchu, H
- Toutain, A
- Achard, F
- Munnich, A
- Maroteaux, P
Producer: 19941011
In:
Human molecular genetics vol. 3
Availability: No items available.
|
|
|
143.
|
Craniofacial anomalies and malformations in respiratory chain deficiency. [electronic resource] by
- Cormier-Daire, V
- Rustin, P
- Rötig, A
- Chrétien, D
- Le Merrer, M
- Belli, D
- Le Goff, A
- Hubert, P
- Ricour, C
- Munnich, A
Producer: 19970311
In:
American journal of medical genetics vol. 66
Availability: No items available.
|
|
|
144.
|
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. [electronic resource] by
- Bahuau, M
- Flintoff, W
- Assouline, B
- Lyonnet, S
- Le Merrer, M
- Prieur, M
- Guilloud-Bataille, M
- Feingold, N
- Munnich, A
- Vidaud, M
- Vidaud, D
Producer: 19970321
In:
American journal of medical genetics vol. 66
Availability: No items available.
|
|
|
145.
|
Clinical variability in patients with Apert's syndrome. [electronic resource] by
- Lajeunie, E
- Cameron, R
- El Ghouzzi, V
- de Parseval, N
- Journeau, P
- Gonzales, M
- Delezoide, A L
- Bonaventure, J
- Le Merrer, M
- Renier, D
Producer: 19990401
In:
Journal of neurosurgery vol. 90
Availability: No items available.
|
|
|
146.
|
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. [electronic resource] by
- Bahuau, M
- Houdayer, C
- Assouline, B
- Blanchet-Bardon, C
- Le Merrer, M
- Lyonnet, S
- Giraud, S
- Récan, D
- Lakhdar, H
- Vidaud, M
- Vidaud, D
Producer: 19980324
In:
American journal of medical genetics vol. 75
Availability: No items available.
|
|
|
147.
|
Facial anomalies in D-2-hydroxyglutaric aciduria. [electronic resource] by
- Amiel, J
- de Lonlay, P
- Francannet, C
- Picard, A
- Bruel, H
- Rabier, D
- Le Merrer, M
- Verhoeven, N
- Jakobs, C
- Lyonnet, S
- Munnich, A
Producer: 19991001
In:
American journal of medical genetics vol. 86
Availability: No items available.
|
|
|
148.
|
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. [electronic resource] by
- Heuertz, S
- Nelen, M
- Wilkie, A O
- Le Merrer, M
- Delrieu, O
- Larget-Piet, L
- Tranebjaerg, L
- Bick, D
- Hamel, B
- Van Oost, B A
Producer: 19940204
In:
Genomics vol. 18
Availability: No items available.
|
|
|
149.
|
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. [electronic resource] by
- Cormier-Daire, V
- Superti-Furga, A
- Munnich, A
- Lyonnet, S
- Rustin, P
- Delezoide, A L
- De Lonlay, P
- Giedion, A
- Maroteaux, P
- Le Merrer, M
Producer: 19980924
In:
American journal of medical genetics vol. 78
Availability: No items available.
|
|
|
150.
|
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. [electronic resource] by
- Faivre, L
- Prieur, A M
- Le Merrer, M
- Hayem, F
- Penet, C
- Woo, P
- Hofer, M
- Dagoneau, N
- Sermet, I
- Munnich, A
- Cormier-Daire, V
Producer: 20010222
In:
American journal of medical genetics vol. 95
Availability: No items available.
|
|
|
151.
|
Clinical and genetic heterogeneity of Seckel syndrome. [electronic resource] by
- Faivre, L
- Le Merrer, M
- Lyonnet, S
- Plauchu, H
- Dagoneau, N
- Campos-Xavier, A B
- Attia-Sobol, J
- Verloes, A
- Munnich, A
- Cormier-Daire, V
Producer: 20030313
In:
American journal of medical genetics vol. 112
Availability: No items available.
|
|
|
152.
|
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. [electronic resource] by
- el Ghouzzi, V
- Le Merrer, M
- Perrin-Schmitt, F
- Lajeunie, E
- Benit, P
- Renier, D
- Bourgeois, P
- Bolcato-Bellemin, A L
- Munnich, A
- Bonaventure, J
Producer: 19970128
In:
Nature genetics vol. 15
Availability: No items available.
|
|
|
153.
|
|
|
|
154.
|
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. [electronic resource] by
- Thauvin-Robinet, C
- El Ghouzzi, V
- Chemaitilly, W
- Dagoneau, N
- Boute, O
- Viot, G
- Mégarbané, A
- Sefiani, A
- Munnich, A
- Le Merrer, M
- Cormier-Daire, V
Producer: 20021213
In:
Journal of medical genetics vol. 39
Availability: No items available.
|
|
|
155.
|
A new lethal syndrome of exomphalos, short limbs, and macrogonadism. [electronic resource] by
- Faivre, L
- Delezoide, A L
- Narcy, F
- Razavi, F
- Bouvier, R
- Cormier-Daire, V
- Briard, M L
- Lyonnet, S
- Vekemans, M
- Munnich, A
- Le Merrer, M
Producer: 19990512
In:
Journal of medical genetics vol. 36
Availability: No items available.
|
|
|
156.
|
Embryonic testicular regression syndrome and severe mental retardation in sibs. [electronic resource] by
- de Grouchy, J
- Gompel, A
- Salomon-Bernard, Y
- Kuttenn, F
- Yaneva, H
- Paniel, J B
- Le Merrer, M
- Roubin, M
- Doussau de Bazignan, M
- Turleau, C
Producer: 19860305
In:
Annales de genetique vol. 28
Availability: No items available.
|
|
|
157.
|
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. [electronic resource] by
- Cormier-Daire, V
- Delezoide, A L
- Philip, N
- Marcorelles, P
- Casas, K
- Hillion, Y
- Faivre, L
- Rimoin, D L
- Munnich, A
- Maroteaux, P
- Le Merrer, M
Producer: 20030318
In:
Journal of medical genetics vol. 40
Availability: No items available.
|
|
|
158.
|
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. [electronic resource] by
- Isidor, B
- Dagoneau, N
- Huber, C
- Genevieve, D
- Bader-Meunier, B
- Blanche, S
- Picard, C
- De Vernejoul, M C
- Munnich, A
- Le Merrer, M
- Cormier-Daire, V
Producer: 20070720
In:
Human genetics vol. 121
Availability: No items available.
|
|
|
159.
|
[Genetic testing in the context of the revision of the French law on bioethics]. [electronic resource] by
- Bonneau, D
- Marlin, S
- Sanlaville, D
- Dupont, J-M
- Sobol, H
- Gonzales, M
- Le Merrer, M
- Malzac, P
- Razavi, F
- Manouvrier, S
- Odent, S
- Stoppa-Lyonnet, D
Producer: 20110208
In:
Pathologie-biologie vol. 58
Availability: No items available.
|
|
|
160.
|
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. [electronic resource] by
- Marlin, S
- Ducou Le Pointe, H
- Le Merrer, M
- Portnoi, M F
- Chantot, S
- Jonard, L
- Mantel-Guiochon, A
- Siffroi, J P
- Garabedian, E N
- Denoyelle, F
Producer: 20100830
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
|