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Molecular Genetics and Metabolism
|
June 6, 2015
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Laurie Smith, William Rhead, Joel Charrow, et al.
Life Science Alliance
|
May 7, 2026
The role of Nrf2 in thyroid maturation and hormone synthesis in vertebrate models
Pierre Gillotay, Sushant Bangru, Benjamin Dassy, et al.
American Journal of Hematology
|
March 18, 2015
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease
Deborah Elstein, Atul Mehta, Derralynn A Hughes, et al.
Advances in Experimental Medicine and Biology
|
January 26, 2007
Genetic factors modifying clinical expression of autosomal dominant RP
Stephen P Daiger, Suma P Shankar, Alice B Schindler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 19, 2014
Fabry disease in infancy and early childhood: a systematic literature review
Dawn A Laney, Dawn S Peck, Andrea M Atherton, et al.
American Journal of Ophthalmology
|
March 21, 2007
Familial cavitary optic disk anomalies: identification of a novel genetic locus
John H Fingert, Robert A Honkanen, Suma P Shankar, et al.
Annals of Translational Medicine
|
September 17, 2021
Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8
Elyse M Salpeter, Brian C Leonard, Antonio J Lopez, et al.
Molecular Genetics & Genomic Medicine
|
April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
Dominique P Germain, Eva Brand, Alessandro Burlina, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy
Yin-Hsiu Chien, Ans van der Ploeg, Simon Jones, et al.
Ophthalmic Genetics
|
March 26, 2008
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
Suma P Shankar, John H Fingert, Valerio Carelli, et al.
Page
of 15
Search research articles
Search
Showing results (111-120 of 144) with videos related to
Sort By:
Page
of 15
Molecular Genetics and Metabolism
|
June 6, 2015
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Laurie Smith, William Rhead, Joel Charrow, et al.
Life Science Alliance
|
May 7, 2026
The role of Nrf2 in thyroid maturation and hormone synthesis in vertebrate models
Pierre Gillotay, Sushant Bangru, Benjamin Dassy, et al.
American Journal of Hematology
|
March 18, 2015
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease
Deborah Elstein, Atul Mehta, Derralynn A Hughes, et al.
Advances in Experimental Medicine and Biology
|
January 26, 2007
Genetic factors modifying clinical expression of autosomal dominant RP
Stephen P Daiger, Suma P Shankar, Alice B Schindler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 19, 2014
Fabry disease in infancy and early childhood: a systematic literature review
Dawn A Laney, Dawn S Peck, Andrea M Atherton, et al.
American Journal of Ophthalmology
|
March 21, 2007
Familial cavitary optic disk anomalies: identification of a novel genetic locus
John H Fingert, Robert A Honkanen, Suma P Shankar, et al.
Annals of Translational Medicine
|
September 17, 2021
Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8
Elyse M Salpeter, Brian C Leonard, Antonio J Lopez, et al.
Molecular Genetics & Genomic Medicine
|
April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
Dominique P Germain, Eva Brand, Alessandro Burlina, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy
Yin-Hsiu Chien, Ans van der Ploeg, Simon Jones, et al.
Ophthalmic Genetics
|
March 26, 2008
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
Suma P Shankar, John H Fingert, Valerio Carelli, et al.
Page
of 15