E-LIB Suche - Ergebnisse für: Bi, Weimin

1

Retrospective analysis of a clinical exome sequencing cohor..:

Chen, Chun-An ; Lattier, John ; Zhu, Wenmiao...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957292/. , 2022

Link: http://www.ncbi.nlm.nih...

2

Clinical exome sequencing uncovers a high frequency of Mend..:

Kumar, Runjun D ; Meng, Linyan ; Liu, Pengfei...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703357/. , 2022

Link: http://www.ncbi.nlm.nih...

3

TCEAL1 loss-of-function results in an X-linked dominant neu..:

Hijazi, Hadia ; Reis, Linda M ; Pehlivan, Davut...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748253/. , 2022

Link: http://www.ncbi.nlm.nih...

4

Exome sequencing efficacy and phenotypic expansions involvi..:

Sy, Mary ; Chauhan, Jaynee ; Prescott, Katrina...
qt4776v05t. , 2022

Link: https://escholarship.org..

5

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V ; Assia Batzir, Nurit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526336/. , 2022

Link: http://www.ncbi.nlm.nih...

6

Exome sequencing efficacy and phenotypic expansions involvi..:

Sy, Mary R ; Chauhan, Jaynee ; Prescott, Katrina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9669235/. , 2022

Link: http://www.ncbi.nlm.nih...

7

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V ; Assia Batzir, Nurit...
Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, et al. "Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits." Genome Medicine, 14, (2022) Springer Nature: https://doi.org/10.1186/s13073-022-01113-y.. , 2022

Link: https://hdl.handle.net/1..

8

LMOD2-related dilated cardiomyopathy presenting in late inf..:

Lay, Erica ; Azamian, Mahshid S ; Denfield, Susan W...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117498/. , 2022

Link: http://www.ncbi.nlm.nih...

9

The multiple de novo copy number variant (MdnCNV) phenomeno..:

Du, Haowei ; Jolly, Angad ; Grochowski, Christopher M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9609164/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:

Chowdhury, Fuad ; Wang, Lei ; Al-Raqad, Mohammed...
https://research.rug.nl/en/publications/8b645f00-a2db-4806-8c67-fe341888ac0d. , 2021

Link: https://hdl.handle.net/1..

11

A rare description of pure partial trisomy of 16q12.2q24.3 ..:

Manor, Joshua ; Daniela, Dinu ; Azamian, Mahshid S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082733/. , 2021

Link: http://www.ncbi.nlm.nih...

12

Contribution of uniparental disomy in a clinical trio exome..:

Wang, Lei ; Liu, Pengfei ; Bi, Weimin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606208/. , 2021

Link: http://www.ncbi.nlm.nih...

13

CSNK2B: a broad spectrum of neurodevelopmental disability a..:

Ernst, Michelle E ; Baugh, Evan H ; Thomas, Amanda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9189716/. , 2021

Link: http://www.ncbi.nlm.nih...

14

RCL1 copy number variants are associated with a range of ne..:

Brownstein, Catherine A ; Smith, Richard S ; Rodan, Lance H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8159744/. , 2021

Link: http://www.ncbi.nlm.nih...

15

CNVs cause autosomal recessive genetic diseases with or wit..:

Yuan, Bo ; Wang, Lei ; Liu, Pengfei...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8445517/. , 2020

Link: http://www.ncbi.nlm.nih...