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Showing results (61-70 of 138) with videos related to

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Genome Medicine|September 30, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsBo Yuan, Katharina V Schulze, Nurit Assia Batzir, et al.
Human Genetics|June 24, 2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityErica R Eichers, Muhammad M Abd-El-Barr, Richard Paylor, et al.
Genome Research|May 21, 2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing allelesPhilip M Boone, Ian M Campbell, Brett C Baggett, et al.
Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.
Clinical Chemistry|January 3, 2025
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic CoverageMatthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
6q22.1 microdeletion and susceptibility to pediatric epilepsyPrzemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, et al.
American Journal of Human Genetics|December 30, 2019
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency DisordersJustin O Szot, Carla Campagnolo, Ye Cao, et al.
American Journal of Medical Genetics. Part A|March 18, 2020
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatmentRebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Pageof 14

Showing results (61-70 of 138) with videos related to

Sort By:
Pageof 14
Genome Medicine|September 30, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsBo Yuan, Katharina V Schulze, Nurit Assia Batzir, et al.
Human Genetics|June 24, 2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityErica R Eichers, Muhammad M Abd-El-Barr, Richard Paylor, et al.
Genome Research|May 21, 2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing allelesPhilip M Boone, Ian M Campbell, Brett C Baggett, et al.
Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.
Clinical Chemistry|January 3, 2025
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic CoverageMatthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
6q22.1 microdeletion and susceptibility to pediatric epilepsyPrzemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, et al.
American Journal of Human Genetics|December 30, 2019
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency DisordersJustin O Szot, Carla Campagnolo, Ye Cao, et al.
American Journal of Medical Genetics. Part A|March 18, 2020
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatmentRebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Pageof 14