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Weimin Bi

Showing results (101-110 of 138) with videos related to

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Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
American Journal of Human Genetics|March 16, 2007
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxWeining Lu, Albertien M van Eerde, Xueping Fan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Journal of Medical Genetics|March 11, 2020
Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHDJorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, et al.
Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.
Pageof 14

Showing results (101-110 of 138) with videos related to

Sort By:
Pageof 14
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
American Journal of Human Genetics|March 16, 2007
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxWeining Lu, Albertien M van Eerde, Xueping Fan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Journal of Medical Genetics|March 11, 2020
Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHDJorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, et al.
Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.
Pageof 14