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Nancy B Spinner

Showing results (91-100 of 140) with videos related to

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Stem Cell Research|December 25, 2024
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutationsElena F Evans, Guibin Chen, Ivan Pavlinov, et al.
Human Mutation|May 4, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer, Ayanna O Laney, Rosemarie Smith, et al.
Plos Biology|May 27, 2009
Transcriptional dysregulation in NIPBL and cohesin mutant human cellsJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
Plos Genetics|August 14, 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1Ying Chen, Melissa A Gilbert, Christopher M Grochowski, et al.
JAMA Network Open|April 13, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset EpilepsyJorune Balciuniene, Elizabeth T DeChene, Gozde Akgumus, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3Melissa Leyva-Vega, Jennifer Gerfen, Brian D Thiel, et al.
American Journal of Human Genetics|July 4, 2015
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and AdolescentsJeffrey R Botkin, John W Belmont, Jonathan S Berg, et al.
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
American Journal of Hematology|September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disordersEdward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Pageof 14

Showing results (91-100 of 140) with videos related to

Sort By:
Pageof 14
Stem Cell Research|December 25, 2024
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutationsElena F Evans, Guibin Chen, Ivan Pavlinov, et al.
Human Mutation|May 4, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer, Ayanna O Laney, Rosemarie Smith, et al.
Plos Biology|May 27, 2009
Transcriptional dysregulation in NIPBL and cohesin mutant human cellsJinglan Liu, Zhe Zhang, Masashige Bando, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
Plos Genetics|August 14, 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1Ying Chen, Melissa A Gilbert, Christopher M Grochowski, et al.
JAMA Network Open|April 13, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset EpilepsyJorune Balciuniene, Elizabeth T DeChene, Gozde Akgumus, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3Melissa Leyva-Vega, Jennifer Gerfen, Brian D Thiel, et al.
American Journal of Human Genetics|July 4, 2015
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and AdolescentsJeffrey R Botkin, John W Belmont, Jonathan S Berg, et al.
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
American Journal of Hematology|September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disordersEdward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Pageof 14