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Nancy B Spinner

Showing results (111-120 of 140) with videos related to

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European Journal of Human Genetics : EJHG|January 11, 2019
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approachChao Wu, Batsal Devkota, Perry Evans, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 24, 2015
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndromeMarialena Mouzaki, Lee M Bass, Ronald J Sokol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 8, 2013
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research ConsortiumJonathan S Berg, Laura M Amendola, Christine Eng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disordersEllen A Tsai, Micah A Berman, Laura K Conlin, et al.
Pediatrics|February 28, 2020
A Centralized Approach for Practicing Genomic MedicineSawona Biswas, Livija Medne, Batsal Devkota, et al.
Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
American Journal of Medical Genetics. Part A|February 11, 2005
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndromeCheryl Descipio, Lori Schneider, Terri L Young, et al.
American Journal of Medical Genetics. Part A|June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomyJennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.
European Journal of Medical Genetics|February 6, 2010
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Feng Li, Yiping Shen, Udo Köhler, et al.
Pageof 14

Showing results (111-120 of 140) with videos related to

Sort By:
Pageof 14
European Journal of Human Genetics : EJHG|January 11, 2019
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approachChao Wu, Batsal Devkota, Perry Evans, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 24, 2015
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndromeMarialena Mouzaki, Lee M Bass, Ronald J Sokol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 8, 2013
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research ConsortiumJonathan S Berg, Laura M Amendola, Christine Eng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disordersEllen A Tsai, Micah A Berman, Laura K Conlin, et al.
Pediatrics|February 28, 2020
A Centralized Approach for Practicing Genomic MedicineSawona Biswas, Livija Medne, Batsal Devkota, et al.
Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
American Journal of Medical Genetics. Part A|February 11, 2005
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndromeCheryl Descipio, Lori Schneider, Terri L Young, et al.
American Journal of Medical Genetics. Part A|June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomyJennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.
European Journal of Medical Genetics|February 6, 2010
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Feng Li, Yiping Shen, Udo Köhler, et al.
Pageof 14