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Results of search for 'au:"le Merrer, M"', page 4 of 10
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Authors
Amiel, J
Bonaventure, J
Briard, M L
Cormier-Daire, V
Dagoneau, N
Delezoide, A L
Faivre, L
Frézal, J
Kaplan, J
Lajeunie, E
Le Merrer, M
Legeai-Mallet, L
Lyonnet, S
Maroteaux, P
Munnich, A
Prieur, M
Renier, D
Rousseau, F
Vekemans, M
Verloes, A
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61.
[Ghosal haematodiaphyseal dysplasia: a new case].
[electronic resource]
by
Vignon-Savoye, C
Le Merrer, M
Vincens, A
Monfort, M
Talon, P
Producer:
20051025
In:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
vol. 12
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62.
[Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis].
[electronic resource]
by
Le Merrer, M
Roume, J
Narcy, F
Larroche, J C
Briard, M L
Producer:
19890818
In:
Journal de genetique humaine
vol. 37
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63.
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
[electronic resource]
by
Manouvrier, S
Moerman, A
Coeslier, A
Devisme, L
Boute, O
Le Merrer, M
Producer:
20000324
In:
American journal of medical genetics
vol. 90
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64.
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.
[electronic resource]
by
Verloes, A
Misson, J P
Dubru, J M
Jamblin, P
Le Merrer, M
Producer:
19951106
In:
Clinical dysmorphology
vol. 4
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65.
Segregation analysis in nonsyndromic holoprosencephaly.
[electronic resource]
by
Odent, S
Le Marec, B
Munnich, A
Le Merrer, M
Bonaïti-Pellié, C
Producer:
19980624
In:
American journal of medical genetics
vol. 77
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66.
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
[electronic resource]
by
Lyonnet, S
Schwartz, G
Gatin, G
de Prost, Y
Munnich, A
Le Merrer, M
Producer:
19920430
In:
Journal of medical genetics
vol. 29
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67.
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.
[electronic resource]
by
Geneviève, D
Le Merrer, M
Feingold, J
Munnich, A
Maroteaux, P
Cormier-Daire, V
Producer:
20080429
In:
American journal of medical genetics. Part A
vol. 146A
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68.
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.
[electronic resource]
by
Valayannopoulos, V
Boddaert, N
Barbier, V
Le Merrer, M
Caillaud, C
de Lonlay, P
Producer:
20100708
In:
Molecular genetics and metabolism
vol. 100
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69.
FGFR2 mutations in Pfeiffer syndrome.
[electronic resource]
by
Lajeunie, E
Ma, H W
Bonaventure, J
Munnich, A
Le Merrer, M
Renier, D
Producer:
19950524
In:
Nature genetics
vol. 9
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70.
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
[electronic resource]
by
Bonaventure, J
Rousseau, F
Legeai-Mallet, L
Le Merrer, M
Munnich, A
Maroteaux, P
Producer:
19970519
In:
Acta paediatrica (Oslo, Norway : 1992). Supplement
vol. 417
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71.
[Dubowitz syndrome].
[electronic resource]
by
Bodemer, C
Consten, L
Narcy, C
Le Merrer, M
Teillac, D
de Prost, Y
Producer:
19920324
In:
Annales de dermatologie et de venereologie
vol. 118
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72.
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
[electronic resource]
by
Lajeunie, E
El Ghouzzi, V
Le Merrer, M
Munnich, A
Bonaventure, J
Renier, D
Producer:
19990421
In:
Journal of medical genetics
vol. 36
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73.
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.
[electronic resource]
by
Labrune, P
Trioche, P
Fallet-Bianco, C
Roume, J
Narcy, F
Le Merrer, M
Producer:
19980212
In:
American journal of medical genetics
vol. 73
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74.
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.
[electronic resource]
by
Unger, S
Le Merrer, M
Meinecke, P
Chitayat, D
Rossi, A
Superti-Furga, A
Producer:
20020129
In:
Pediatric radiology
vol. 31
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75.
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
[electronic resource]
by
Bonaventure, J
Rousseau, F
Legeai-Mallet, L
Le Merrer, M
Munnich, A
Maroteaux, P
Producer:
19960925
In:
American journal of medical genetics
vol. 63
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76.
X-linked hydrocephalus: clinical heterogeneity at a single gene locus.
[electronic resource]
by
Serville, F
Lyonnet, S
Pelet, A
Reynaud, M
Louail, C
Munnich, A
Le Merrer, M
Producer:
19921119
In:
European journal of pediatrics
vol. 151
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77.
Possible genetic heterogeneity in the Saethre-Chotzen syndrome.
[electronic resource]
by
Ma, H W
Lajeunie, E
de Parseval, N
Munnich, A
Renier, D
Le Merrer, M
Producer:
19960905
In:
Human genetics
vol. 98
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78.
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
[electronic resource]
by
Briault, S
Odent, S
Lucas, J
Le Merrer, M
Turleau, C
Munnich, A
Moraine, C
Producer:
19991001
In:
American journal of medical genetics
vol. 86
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79.
[Fibroblast growth factor receptors and hereditary abnormalities of bone growth].
[electronic resource]
by
Bonaventure, J
Rousseau, F
Legeai-Mallet, L
Benoist-Lasselin, C
Le Merrer, M
Munnich, A
Producer:
19970818
In:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
vol. 4
Online resources:
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80.
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
[electronic resource]
by
Edery, P
Manach, Y
Le Merrer, M
Till, M
Vignal, A
Lyonnet, S
Munnich, A
Producer:
19950125
In:
American journal of medical genetics
vol. 52
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