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Weimin Bi

Showing results (91-100 of 138) with videos related to

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Neurology. Genetics|August 18, 2020
Integrated sequencing and array comparative genomic hybridization in familial Parkinson diseaseLaurie A Robak, Renqian Du, Bo Yuan, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genome Research|May 10, 2013
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traitsPiotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, et al.
American Journal of Human Genetics|August 5, 2014
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersIan M Campbell, Bo Yuan, Caroline Robberecht, et al.
Pageof 14

Showing results (91-100 of 138) with videos related to

Sort By:
Pageof 14
Neurology. Genetics|August 18, 2020
Integrated sequencing and array comparative genomic hybridization in familial Parkinson diseaseLaurie A Robak, Renqian Du, Bo Yuan, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genome Research|May 10, 2013
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traitsPiotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, et al.
American Journal of Human Genetics|August 5, 2014
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersIan M Campbell, Bo Yuan, Caroline Robberecht, et al.
Pageof 14