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J R Lupski

Showing results (91-100 of 209) with videos related to

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American Journal of Medical Genetics|September 1, 1991
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophyJ R Lupski, C A Garcia, H Y Zoghbi, et al.
Clinical Genetics|June 1, 2011
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22C M B Carvalho, M Bartnik, D Pehlivan, et al.
Human Molecular Genetics|December 1, 2001
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degenerationN F Shroyer, R A Lewis, A N Yatsenko, et al.
Kidney International|June 9, 2000
Identification of novel genes expressed during metanephric induction through single-cell library screeningJ M Abidari, E T Gonzales, K Inoue, et al.
Nature Genetics|November 1, 1993
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) geneB B Roa, P J Dyck, H G Marks, et al.
Annals of Neurology|October 1, 1991
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophyE P Hoffman, C A Garcia, J S Chamberlain, et al.
Scandinavian Journal of Gastroenterology|July 1, 1995
Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associationsM F Go, K Y Chan, J Versalovic, et al.
Journal of Medical Microbiology|January 8, 1999
SERE, a widely dispersed bacterial repetitive DNA elementG Rajashekara, T Koeuth, S Nevile, et al.
Antimicrobial Agents and Chemotherapy|November 1, 1990
Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureusM Nesin, P Svec, J R Lupski, et al.
Vision Research|July 9, 1999
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorialN F Shroyer, R A Lewis, R Allikmets, et al.
Pageof 21

Showing results (91-100 of 209) with videos related to

Sort By:
Pageof 21
American Journal of Medical Genetics|September 1, 1991
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophyJ R Lupski, C A Garcia, H Y Zoghbi, et al.
Clinical Genetics|June 1, 2011
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22C M B Carvalho, M Bartnik, D Pehlivan, et al.
Human Molecular Genetics|December 1, 2001
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degenerationN F Shroyer, R A Lewis, A N Yatsenko, et al.
Kidney International|June 9, 2000
Identification of novel genes expressed during metanephric induction through single-cell library screeningJ M Abidari, E T Gonzales, K Inoue, et al.
Nature Genetics|November 1, 1993
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) geneB B Roa, P J Dyck, H G Marks, et al.
Annals of Neurology|October 1, 1991
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophyE P Hoffman, C A Garcia, J S Chamberlain, et al.
Scandinavian Journal of Gastroenterology|July 1, 1995
Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associationsM F Go, K Y Chan, J Versalovic, et al.
Journal of Medical Microbiology|January 8, 1999
SERE, a widely dispersed bacterial repetitive DNA elementG Rajashekara, T Koeuth, S Nevile, et al.
Antimicrobial Agents and Chemotherapy|November 1, 1990
Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureusM Nesin, P Svec, J R Lupski, et al.
Vision Research|July 9, 1999
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorialN F Shroyer, R A Lewis, R Allikmets, et al.
Pageof 21