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Nancy B Spinner

Showing results (81-90 of 140) with videos related to

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Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Stem Cell Research|May 4, 2024
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 geneOmer Hatim, Miao Xu, Ivan Pavlinov, et al.
Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.
Journal of Pediatric Gastroenterology and Nutrition|May 11, 2010
Pathologic lower extremity fractures in children with Alagille syndromeChristina B Bales, Binita M Kamath, Pedro S Munoz, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndromeLaura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factorsKosuke Izumi, Daisuke Hayashi, Christopher M Grochowski, et al.
BMC Medical Genetics|December 23, 2011
Mechanisms of ring chromosome formation, ring instability and clinical consequencesRoberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, et al.
American Journal of Medical Genetics. Part A|December 11, 2012
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP arrayKosuke Izumi, Avni B Santani, Matthew A Deardorff, et al.
Gastroenterology|June 8, 2020
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary AtresiaXiao Zhao, Kristin Lorent, Diana Escobar-Zarate, et al.
Hepatology (Baltimore, Md.)|November 26, 2008
Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotypeMatthew J Ryan, Christina Bales, Anthony Nelson, et al.
Pageof 14

Showing results (81-90 of 140) with videos related to

Sort By:
Pageof 14
Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Stem Cell Research|May 4, 2024
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 geneOmer Hatim, Miao Xu, Ivan Pavlinov, et al.
Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.
Journal of Pediatric Gastroenterology and Nutrition|May 11, 2010
Pathologic lower extremity fractures in children with Alagille syndromeChristina B Bales, Binita M Kamath, Pedro S Munoz, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndromeLaura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factorsKosuke Izumi, Daisuke Hayashi, Christopher M Grochowski, et al.
BMC Medical Genetics|December 23, 2011
Mechanisms of ring chromosome formation, ring instability and clinical consequencesRoberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, et al.
American Journal of Medical Genetics. Part A|December 11, 2012
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP arrayKosuke Izumi, Avni B Santani, Matthew A Deardorff, et al.
Gastroenterology|June 8, 2020
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary AtresiaXiao Zhao, Kristin Lorent, Diana Escobar-Zarate, et al.
Hepatology (Baltimore, Md.)|November 26, 2008
Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotypeMatthew J Ryan, Christina Bales, Anthony Nelson, et al.
Pageof 14