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X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton’s tyr...
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital my...
Abstract Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease re...
We report on a 12-year-old boy with the myopathic form of phosphoglycerate kinase (PGK) deficiency, ...
The molecular abnormality of a phosphoglycerate kinase variant which was associated with severe tiss...
Phosphoglycerate kinase (PGK) deficiency is generally asso-ciated with chronic hemolytic anemia, al...
Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransf...
Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransf...
Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficie...
Background. Phosphoglycerate kinase 1, (PGK1) the isoenzyme that catalyzes the first ATP-generating ...
Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent my...
Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransf...
Carriers of cytogenetically similar, apparently balanced familial chromosome translocations not alwa...
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) character...
Acessível em: www.ncbi.nlm.nih.gov/pmc/articles/pmid/25814383/Carriers of cytogenetically similar, a...
X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton’s tyr...
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital my...
Abstract Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease re...
We report on a 12-year-old boy with the myopathic form of phosphoglycerate kinase (PGK) deficiency, ...
The molecular abnormality of a phosphoglycerate kinase variant which was associated with severe tiss...
Phosphoglycerate kinase (PGK) deficiency is generally asso-ciated with chronic hemolytic anemia, al...
Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransf...
Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransf...
Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficie...
Background. Phosphoglycerate kinase 1, (PGK1) the isoenzyme that catalyzes the first ATP-generating ...
Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent my...
Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransf...
Carriers of cytogenetically similar, apparently balanced familial chromosome translocations not alwa...
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) character...
Acessível em: www.ncbi.nlm.nih.gov/pmc/articles/pmid/25814383/Carriers of cytogenetically similar, a...
X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton’s tyr...
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital my...
Abstract Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease re...