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R Carmi

Showing results (61-70 of 103) with videos related to

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American Journal of Medical Genetics|January 1, 1979
Monosomy 21: a possible stepwise evolution of the karyotypeD Abeliovich, R Carmi, M Karplus, et al.
American Journal of Human Genetics|October 30, 1998
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mappingN B Haider, R Carmi, H Shalev, et al.
Journal of Pediatric Surgery|October 1, 1983
Discordant Hirschsprung's disease in monozygotic twinsL Siplovich, R Carmi, J Bar-Ziv, et al.
Human Mutation|March 1, 2000
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. OnlineJ Chinsky, M Appel, S Almashanu, et al.
American Journal of Medical Genetics|February 2, 1996
Refined genetic mapping of X-linked thoracoabdominal syndromeR Parvari, R Carmi, J Weissenbach, et al.
American Journal of Medical Genetics|January 1, 1980
Malformation syndrome associated with small extra chromosomeR Carmi, D Abeliovich, J Bar-Ziv, et al.
Developmental Medicine and Child Neurology|December 1, 1991
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor developmentA Galil, R Carmi, E Goldstein, et al.
American Journal of Medical Genetics|April 20, 1999
Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowthR Parvari, S Mumm, A Galil, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 26, 2000
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 geneH Abdul-Latif, E Leiberman, M R Brown, et al.
Clinical Pediatrics|August 1, 1985
Familial meconium ileus with normal sweat electrolytesA Tal, R Carmi, E Chai-Am, et al.
Pageof 11

Showing results (61-70 of 103) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics|January 1, 1979
Monosomy 21: a possible stepwise evolution of the karyotypeD Abeliovich, R Carmi, M Karplus, et al.
American Journal of Human Genetics|October 30, 1998
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mappingN B Haider, R Carmi, H Shalev, et al.
Journal of Pediatric Surgery|October 1, 1983
Discordant Hirschsprung's disease in monozygotic twinsL Siplovich, R Carmi, J Bar-Ziv, et al.
Human Mutation|March 1, 2000
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. OnlineJ Chinsky, M Appel, S Almashanu, et al.
American Journal of Medical Genetics|February 2, 1996
Refined genetic mapping of X-linked thoracoabdominal syndromeR Parvari, R Carmi, J Weissenbach, et al.
American Journal of Medical Genetics|January 1, 1980
Malformation syndrome associated with small extra chromosomeR Carmi, D Abeliovich, J Bar-Ziv, et al.
Developmental Medicine and Child Neurology|December 1, 1991
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor developmentA Galil, R Carmi, E Goldstein, et al.
American Journal of Medical Genetics|April 20, 1999
Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowthR Parvari, S Mumm, A Galil, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 26, 2000
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 geneH Abdul-Latif, E Leiberman, M R Brown, et al.
Clinical Pediatrics|August 1, 1985
Familial meconium ileus with normal sweat electrolytesA Tal, R Carmi, E Chai-Am, et al.
Pageof 11