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S Bottomley

Showing results (81-90 of 100) with videos related to

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Pediatric Blood & Cancer|September 5, 2009
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsAnke K Bergmann, Dean R Campagna, Erin M McLoughlin, et al.
The Journal of Biological Chemistry|November 15, 2024
Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiencyNolan R Bick, Margaret B Dreishpoon, Ava Perry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2001
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase geneR B Ramdall, L Cunha, K H Astrin, et al.
Blood Cells, Molecules & Diseases|June 1, 2006
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patternsManuel Aivado, Norbert Gattermann, Astrid Rong, et al.
The American Journal of the Medical Sciences|April 15, 2009
Copper deficiency after gastric surgery: a reason for cautionCalin I Prodan, Sylvia S Bottomley, Andrea S Vincent, et al.
American Journal of Human Genetics|January 1, 1990
Erythroid 5-aminolevulinate synthase is located on the X chromosomeT C Cox, M J Bawden, N G Abraham, et al.
Blood|February 6, 2025
X-linked sideroblastic anemia in femalesSarah Ducamp, Dean R Campagna, Anoop K Sendamarai, et al.
British Journal of Haematology|August 30, 2008
Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anaemiaFlorent M Martin, Josef Prchal, Jorge Nieva, et al.
The International Journal of Biochemistry & Cell Biology|December 4, 2003
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesisTimothy C Cox, Timothy J Sadlon, Quenten P Schwarz, et al.
Biochimica Et Biophysica Acta|April 11, 2003
5-Aminolevulinic acid synthase: mechanism, mutations and medicinePeter M Shoolingin-Jordan, Sooad Al-Daihan, Dmitriy Alexeev, et al.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
Pediatric Blood & Cancer|September 5, 2009
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsAnke K Bergmann, Dean R Campagna, Erin M McLoughlin, et al.
The Journal of Biological Chemistry|November 15, 2024
Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiencyNolan R Bick, Margaret B Dreishpoon, Ava Perry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2001
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase geneR B Ramdall, L Cunha, K H Astrin, et al.
Blood Cells, Molecules & Diseases|June 1, 2006
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patternsManuel Aivado, Norbert Gattermann, Astrid Rong, et al.
The American Journal of the Medical Sciences|April 15, 2009
Copper deficiency after gastric surgery: a reason for cautionCalin I Prodan, Sylvia S Bottomley, Andrea S Vincent, et al.
American Journal of Human Genetics|January 1, 1990
Erythroid 5-aminolevulinate synthase is located on the X chromosomeT C Cox, M J Bawden, N G Abraham, et al.
Blood|February 6, 2025
X-linked sideroblastic anemia in femalesSarah Ducamp, Dean R Campagna, Anoop K Sendamarai, et al.
British Journal of Haematology|August 30, 2008
Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anaemiaFlorent M Martin, Josef Prchal, Jorge Nieva, et al.
The International Journal of Biochemistry & Cell Biology|December 4, 2003
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesisTimothy C Cox, Timothy J Sadlon, Quenten P Schwarz, et al.
Biochimica Et Biophysica Acta|April 11, 2003
5-Aminolevulinic acid synthase: mechanism, mutations and medicinePeter M Shoolingin-Jordan, Sooad Al-Daihan, Dmitriy Alexeev, et al.
Pageof 10