P Maroteaux|M Le Merrer - JoVE Visualize

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Journal Francais D'Ophtalmologie|January 1, 1994

[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study]B Girard, T Hoang-Xuan, F D'Hermies, et al.

Journal De Radiologie|August 1, 1980

[Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)]J Sauvegrain, P Maroteaux, J Ribier, et al.

American Journal of Human Genetics|October 3, 1998

A gene for Meckel syndrome maps to chromosome 11q13J Roume, E Genin, V Cormier-Daire, et al.

Clinical Dysmorphology|October 1, 1992

New autosomal recessive chondrodysplasia--pseudohermaphrodism syndromeA Nivelon, J L Nivelon, J P Mabille, et al.

Comptes Rendus Hebdomadaires Des Seances De L'Academie Des Sciences. Serie D: Sciences Naturelles|February 16, 1976

[The structure of three major oligosaccharides in the urine of patients with mucolipidosis type II and with two new types of metabolic disease]G Stecker, B Fournet, T HondiAssah, et al.

American Journal of Medical Genetics|September 1, 1982

AtelosteogenesisP Maroteaux, J Spranger, V Stanescu, et al.

Archives Francaises De Pediatrie|January 1, 1993

[Osteogenesis imperfecta with hypertrophic callus. Apropos of 2 cases with early onset]H Soua, L Karboul, A Ayadi, et al.

Archives Francaises De Pediatrie|August 1, 1982

[Robinow's syndrome with dominant transmission]L Vallée, P Y Van Nerom, F G Ferraz, et al.

Biochimica Et Biophysica Acta|September 24, 1976

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosisG Strecker, T Hondi-Assah, B Fournet, et al.

European Journal of Medical Genetics|August 28, 2007

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)P Callier, L Faivre, N Marle, et al.

Pageof 29

Showing results (251-260 of 290) with videos related to

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Pageof 29

Journal Francais D'Ophtalmologie|January 1, 1994

[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study]B Girard, T Hoang-Xuan, F D'Hermies, et al.

Journal De Radiologie|August 1, 1980

[Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)]J Sauvegrain, P Maroteaux, J Ribier, et al.

American Journal of Human Genetics|October 3, 1998

A gene for Meckel syndrome maps to chromosome 11q13J Roume, E Genin, V Cormier-Daire, et al.

Clinical Dysmorphology|October 1, 1992

New autosomal recessive chondrodysplasia--pseudohermaphrodism syndromeA Nivelon, J L Nivelon, J P Mabille, et al.

Comptes Rendus Hebdomadaires Des Seances De L'Academie Des Sciences. Serie D: Sciences Naturelles|February 16, 1976

[The structure of three major oligosaccharides in the urine of patients with mucolipidosis type II and with two new types of metabolic disease]G Stecker, B Fournet, T HondiAssah, et al.

American Journal of Medical Genetics|September 1, 1982

AtelosteogenesisP Maroteaux, J Spranger, V Stanescu, et al.

Archives Francaises De Pediatrie|January 1, 1993

[Osteogenesis imperfecta with hypertrophic callus. Apropos of 2 cases with early onset]H Soua, L Karboul, A Ayadi, et al.

Archives Francaises De Pediatrie|August 1, 1982

[Robinow's syndrome with dominant transmission]L Vallée, P Y Van Nerom, F G Ferraz, et al.

Biochimica Et Biophysica Acta|September 24, 1976

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosisG Strecker, T Hondi-Assah, B Fournet, et al.

European Journal of Medical Genetics|August 28, 2007

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)P Callier, L Faivre, N Marle, et al.

Pageof 29