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Nature Genetics
|
February 1, 1995
FGFR2 mutations in Pfeiffer syndrome
E Lajeunie, H W Ma, J Bonaventure, et al.
American Journal of Medical Genetics
|
December 31, 1997
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature
P Labrune, P Trioche, C Fallet-Bianco, et al.
Journal of Medical Genetics
|
February 9, 1999
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
E Lajeunie, V El Ghouzzi, M Le Merrer, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2008
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature
D Geneviève, M Le Merrer, J Feingold, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|
October 1, 1996
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
J Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Annales De Dermatologie Et De Venereologie
|
January 1, 1991
[Dubowitz syndrome]
C Bodemer, L Consten, C Narcy, et al.
American Journal of Medical Genetics
|
August 17, 1999
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
S Briault, S Odent, J Lucas, et al.
Journal of Medical Genetics
|
July 4, 2001
Genotype-phenotype correlation in hereditary multiple exostoses
C Francannet, A Cohen-Tanugi, M Le Merrer, et al.
European Journal of Pediatrics
|
July 1, 1992
X-linked hydrocephalus: clinical heterogeneity at a single gene locus
F Serville, S Lyonnet, A Pelet, et al.
American Journal of Medical Genetics
|
August 15, 1994
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome
P Edery, Y Manach, M Le Merrer, et al.
Page
of 19
Search research articles
Search
Showing results (71-80 of 188) with videos related to
Sort By:
Page
of 19
Nature Genetics
|
February 1, 1995
FGFR2 mutations in Pfeiffer syndrome
E Lajeunie, H W Ma, J Bonaventure, et al.
American Journal of Medical Genetics
|
December 31, 1997
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature
P Labrune, P Trioche, C Fallet-Bianco, et al.
Journal of Medical Genetics
|
February 9, 1999
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
E Lajeunie, V El Ghouzzi, M Le Merrer, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2008
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature
D Geneviève, M Le Merrer, J Feingold, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|
October 1, 1996
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
J Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Annales De Dermatologie Et De Venereologie
|
January 1, 1991
[Dubowitz syndrome]
C Bodemer, L Consten, C Narcy, et al.
American Journal of Medical Genetics
|
August 17, 1999
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
S Briault, S Odent, J Lucas, et al.
Journal of Medical Genetics
|
July 4, 2001
Genotype-phenotype correlation in hereditary multiple exostoses
C Francannet, A Cohen-Tanugi, M Le Merrer, et al.
European Journal of Pediatrics
|
July 1, 1992
X-linked hydrocephalus: clinical heterogeneity at a single gene locus
F Serville, S Lyonnet, A Pelet, et al.
American Journal of Medical Genetics
|
August 15, 1994
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome
P Edery, Y Manach, M Le Merrer, et al.
Page
of 19