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Human Molecular Genetics
|
May 1, 1992
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
K B Sims, R V Lebo, G Benson, et al.
American Journal of Medical Genetics
|
January 1, 1992
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes
F A Collins, D L Murphy, A L Reiss, et al.
Neuron
|
January 1, 1989
Monoamine oxidase deficiency in males with an X chromosome deletion
K B Sims, A de la Chapelle, R Norio, et al.
Clinical Genetics
|
March 4, 2008
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study
K B Sims, G M Pastores, N J Weinreb, et al.
Clinical Immunology (Orlando, Fla.)
|
September 30, 2014
Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases
S Farough, A Karaa, M A Walker, et al.
Genetic Testing
|
January 11, 2000
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
C Klein, J Friedman, S Bressman, et al.
American Journal of Medical Genetics
|
March 2, 1999
Screen for MAOA mutations in target human groups
D E Schuback, E L Mulligan, K B Sims, et al.
Page
of 3
Search research articles
Search
Showing results (21-30 of 27) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 27 results.
Human Molecular Genetics
|
May 1, 1992
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
K B Sims, R V Lebo, G Benson, et al.
American Journal of Medical Genetics
|
January 1, 1992
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes
F A Collins, D L Murphy, A L Reiss, et al.
Neuron
|
January 1, 1989
Monoamine oxidase deficiency in males with an X chromosome deletion
K B Sims, A de la Chapelle, R Norio, et al.
Clinical Genetics
|
March 4, 2008
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study
K B Sims, G M Pastores, N J Weinreb, et al.
Clinical Immunology (Orlando, Fla.)
|
September 30, 2014
Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases
S Farough, A Karaa, M A Walker, et al.
Genetic Testing
|
January 11, 2000
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
C Klein, J Friedman, S Bressman, et al.
American Journal of Medical Genetics
|
March 2, 1999
Screen for MAOA mutations in target human groups
D E Schuback, E L Mulligan, K B Sims, et al.
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of 3