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H Mandel

Showing results (161-170 of 188) with videos related to

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The Journal of Pediatrics|October 1, 1994
A new type of peroxisomal disorder with variable expression in liver and fibroblastsH Mandel, M Espeel, F Roels, et al.
Nature Genetics|November 1, 2001
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNAH Mandel, R Szargel, V Labay, et al.
Nature Genetics|July 3, 1999
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafnessV Labay, T Raz, D Baron, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicismC Knopf, R Rod, J Jaeken, et al.
American Journal of Medical Genetics|October 23, 1997
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studiesR Parvari, K J Lei, N Bashan, et al.
European Journal of Cell Biology|August 1, 1995
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disordersM Espeel, F Roels, M Giros, et al.
American Journal of Human Genetics|June 23, 1998
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mappingA Shalata, H Mandel, J Reiss, et al.
Biorxiv : the Preprint Server for Biology|August 7, 2023
Pathogenic CANVAS (AAGGG)<sub>n</sub> repeats stall DNA replication due to the formation of alternative DNA structuresJulia A Hisey, Elina A Radchenko, Silvia Ceschi, et al.
Human Mutation|June 30, 2000
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight familiesT Raz, V Labay, D Baron, et al.
Hepatology (Baltimore, Md.)|August 1, 1995
Peroxisome mosaicism in the livers of peroxisomal deficiency patientsM Espeel, H Mandel, F Poggi, et al.
Pageof 19

Showing results (161-170 of 188) with videos related to

Sort By:
Pageof 19
The Journal of Pediatrics|October 1, 1994
A new type of peroxisomal disorder with variable expression in liver and fibroblastsH Mandel, M Espeel, F Roels, et al.
Nature Genetics|November 1, 2001
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNAH Mandel, R Szargel, V Labay, et al.
Nature Genetics|July 3, 1999
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafnessV Labay, T Raz, D Baron, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicismC Knopf, R Rod, J Jaeken, et al.
American Journal of Medical Genetics|October 23, 1997
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studiesR Parvari, K J Lei, N Bashan, et al.
European Journal of Cell Biology|August 1, 1995
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disordersM Espeel, F Roels, M Giros, et al.
American Journal of Human Genetics|June 23, 1998
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mappingA Shalata, H Mandel, J Reiss, et al.
Biorxiv : the Preprint Server for Biology|August 7, 2023
Pathogenic CANVAS (AAGGG)<sub>n</sub> repeats stall DNA replication due to the formation of alternative DNA structuresJulia A Hisey, Elina A Radchenko, Silvia Ceschi, et al.
Human Mutation|June 30, 2000
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight familiesT Raz, V Labay, D Baron, et al.
Hepatology (Baltimore, Md.)|August 1, 1995
Peroxisome mosaicism in the livers of peroxisomal deficiency patientsM Espeel, H Mandel, F Poggi, et al.
Pageof 19