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B Steinmann

Showing results (221-230 of 238) with videos related to

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Nature Genetics|October 1, 1993
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2M R Pollak, Y H Chou, J J Cerda, et al.
Pediatric Research|April 1, 1985
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cellsE A Kvittingen, B Steinmann, R Gitzelmann, et al.
American Journal of Medical Genetics|February 15, 1992
Molecular nosology of heritable disorders of connective tissueP Beighton, A De Paepe, J G Hall, et al.
Schweizer Archiv Fur Tierheilkunde|April 3, 2010
[Swiss warmblood horse with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclophylin B gene (PPIB)]S Rüfenacht, R Straub, B Steinmann, et al.
American Journal of Human Genetics|May 1, 1989
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and SwitzerlandS E Sullivan, S D Moore, J M Connor, et al.
The New England Journal of Medicine|April 2, 1992
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative StudyP Tsipouras, R Del Mastro, M Sarfarazi, et al.
Cell|December 31, 1993
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidismM R Pollak, E M Brown, Y H Chou, et al.
American Journal of Human Genetics|September 1, 1991
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the geneK Kainulainen, B Steinmann, F Collins, et al.
American Journal of Human Genetics|June 1, 1996
Mutations and phenotype in isolated glycerol kinase deficiencyA P Walker, F Muscatelli, A N Stafford, et al.
Genomics|September 24, 1999
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1L Feliubadaló, L Bisceglia, M Font, et al.
Pageof 24

Showing results (221-230 of 238) with videos related to

Sort By:
Pageof 24
Nature Genetics|October 1, 1993
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2M R Pollak, Y H Chou, J J Cerda, et al.
Pediatric Research|April 1, 1985
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cellsE A Kvittingen, B Steinmann, R Gitzelmann, et al.
American Journal of Medical Genetics|February 15, 1992
Molecular nosology of heritable disorders of connective tissueP Beighton, A De Paepe, J G Hall, et al.
Schweizer Archiv Fur Tierheilkunde|April 3, 2010
[Swiss warmblood horse with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclophylin B gene (PPIB)]S Rüfenacht, R Straub, B Steinmann, et al.
American Journal of Human Genetics|May 1, 1989
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and SwitzerlandS E Sullivan, S D Moore, J M Connor, et al.
The New England Journal of Medicine|April 2, 1992
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative StudyP Tsipouras, R Del Mastro, M Sarfarazi, et al.
Cell|December 31, 1993
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidismM R Pollak, E M Brown, Y H Chou, et al.
American Journal of Human Genetics|September 1, 1991
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the geneK Kainulainen, B Steinmann, F Collins, et al.
American Journal of Human Genetics|June 1, 1996
Mutations and phenotype in isolated glycerol kinase deficiencyA P Walker, F Muscatelli, A N Stafford, et al.
Genomics|September 24, 1999
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1L Feliubadaló, L Bisceglia, M Font, et al.
Pageof 24