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R Gitzelmann

Showing results (111-120 of 117) with videos related to

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Proceedings of the Association of American Physicians|May 1, 1996
Gaucher disease: four families with previously undescribed mutationsE Beutler, T Gelbart, D Balicki, et al.
The Journal of Small Animal Practice|September 1, 1996
Mucolipidosis type II in a domestic shorthair catM Hubler, M E Haskins, S Arnold, et al.
Helvetica Paediatrica Acta|September 1, 1980
Excretion of pterins in phenylketonuria and phenylketonuria variantsA Niederwieser, H C Curtius, R Gitzelmann, et al.
Annals of the New York Academy of Sciences|June 8, 1996
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycansA Superti-Furga, J Hästbacka, A Rossi, et al.
Nature Genetics|January 1, 1996
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga, J Hästbacka, W R Wilcox, et al.
Human Mutation|May 2, 2000
Novel mutations in 13 probands with galactokinase deficiencyV Kolosha, E Anoia, C de Cespedes, et al.
American Journal of Human Genetics|October 16, 1999
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)L Kalaydjieva, A Perez-Lezaun, D Angelicheva, et al.
Pageof 12

Showing results (111-120 of 117) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 117 results.
Proceedings of the Association of American Physicians|May 1, 1996
Gaucher disease: four families with previously undescribed mutationsE Beutler, T Gelbart, D Balicki, et al.
The Journal of Small Animal Practice|September 1, 1996
Mucolipidosis type II in a domestic shorthair catM Hubler, M E Haskins, S Arnold, et al.
Helvetica Paediatrica Acta|September 1, 1980
Excretion of pterins in phenylketonuria and phenylketonuria variantsA Niederwieser, H C Curtius, R Gitzelmann, et al.
Annals of the New York Academy of Sciences|June 8, 1996
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycansA Superti-Furga, J Hästbacka, A Rossi, et al.
Nature Genetics|January 1, 1996
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga, J Hästbacka, W R Wilcox, et al.
Human Mutation|May 2, 2000
Novel mutations in 13 probands with galactokinase deficiencyV Kolosha, E Anoia, C de Cespedes, et al.
American Journal of Human Genetics|October 16, 1999
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)L Kalaydjieva, A Perez-Lezaun, D Angelicheva, et al.
Pageof 12