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Journal De Genetique Humaine
|
June 1, 1984
[Malformation uropathies and multiple malformation syndromes]
M L Briard, M Le Merrer, J Kaplan, et al.
Clinical Dysmorphology
|
July 1, 1995
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation
A Verloes, J P Misson, J M Dubru, et al.
Journal Francais D'Ophtalmologie
|
November 5, 2025
[Giant cell arteritis (GCA) presenting as isolated paracentral acute middle maculopathy (PAMM)]
M Le Merrer, L Mourozeau, B Pawlicki, et al.
Journal De Genetique Humaine
|
June 1, 1989
[Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis]
M Le Merrer, J Roume, F Narcy, et al.
American Journal of Medical Genetics
|
March 8, 2000
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
S Manouvrier, A Moerman, A Coeslier, et al.
American Journal of Medical Genetics
|
May 30, 1998
Segregation analysis in nonsyndromic holoprosencephaly
S Odent, B Le Marec, A Munnich, et al.
American Journal of Medical Genetics
|
May 3, 1996
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
J Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Molecular Genetics and Metabolism
|
January 29, 2010
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase
V Valayannopoulos, N Boddaert, V Barbier, et al.
Pediatric Radiology
|
December 1, 2001
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias
S Unger, M Le Merrer, P Meinecke, et al.
Journal of Medical Genetics
|
January 1, 1992
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
S Lyonnet, G Schwartz, G Gatin, et al.
Page
of 19
Search research articles
Search
Showing results (61-70 of 188) with videos related to
Sort By:
Page
of 19
Journal De Genetique Humaine
|
June 1, 1984
[Malformation uropathies and multiple malformation syndromes]
M L Briard, M Le Merrer, J Kaplan, et al.
Clinical Dysmorphology
|
July 1, 1995
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation
A Verloes, J P Misson, J M Dubru, et al.
Journal Francais D'Ophtalmologie
|
November 5, 2025
[Giant cell arteritis (GCA) presenting as isolated paracentral acute middle maculopathy (PAMM)]
M Le Merrer, L Mourozeau, B Pawlicki, et al.
Journal De Genetique Humaine
|
June 1, 1989
[Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis]
M Le Merrer, J Roume, F Narcy, et al.
American Journal of Medical Genetics
|
March 8, 2000
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
S Manouvrier, A Moerman, A Coeslier, et al.
American Journal of Medical Genetics
|
May 30, 1998
Segregation analysis in nonsyndromic holoprosencephaly
S Odent, B Le Marec, A Munnich, et al.
American Journal of Medical Genetics
|
May 3, 1996
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
J Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Molecular Genetics and Metabolism
|
January 29, 2010
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase
V Valayannopoulos, N Boddaert, V Barbier, et al.
Pediatric Radiology
|
December 1, 2001
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias
S Unger, M Le Merrer, P Meinecke, et al.
Journal of Medical Genetics
|
January 1, 1992
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
S Lyonnet, G Schwartz, G Gatin, et al.
Page
of 19