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Bi, Weimin
487
results:
Search for persons
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Online (487)
Mediatypes
Articles (Online) (272)
Bookchapter (Online) (5)
OpenAccess-fulltext (210)
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Sorted by: Year
?
1
P682: Phenotype expansion or multilocus variants? Additiona..:
Saeidian, Amir Hossein
;
Vossaert, Liesbeth
;
Mizerik, Elizabeth
...
Genetics in Medicine Open. 2 (2024) - p. 101586 , 2024
Link:
https://doi.org/10.1016/..
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2
NODAL variants are associated with a continuum of lateralit..:
Dardas, Zain
;
Fatih, Jawid M.
;
Jolly, Angad
...
Genome Medicine. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
3
P593: Detection of single-gene copy-number variations throu..:
Kin Chau, Matthew Hoi
;
Anderson, Stephanie
;
Song, Rodger
...
Genetics in Medicine Open. 2 (2024) - p. 101499 , 2024
Link:
https://doi.org/10.1016/..
?
4
Compound heterozygosity of a de novo submicroscopic deletio..:
Sakyu, Takuya
;
Stover, Samantha R.
;
Wang, Yue
...
Clinical Case Reports. 11 (2023) 2 - p. , 2023
Link:
https://doi.org/10.1002/..
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5
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdele..:
Rios, Jonathan J.
;
Li, Yang
;
Paria, Nandina
...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2103-2111 , 2023
Link:
https://doi.org/10.1016/..
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6
P130: Case report: Phenotypic features among four first-deg..:
Bradley, Catherine
;
Streff, Haley
;
Bi, Weimin
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100159 , 2023
Link:
https://doi.org/10.1016/..
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7
Chromosomal microarray analysis supplements exome sequencin..:
Beers, Breanna J.
;
Similuk, Morgan N.
;
Ghosh, Rajarshi
...
Frontiers in Immunology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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8
eP400: Utility of genome sequencing in CNV identification i..:
Seifert, Bryce
;
Similuk, Morgan
;
Setzer, Michael
...
Genetics in Medicine. 24 (2022) 3 - p. S252 , 2022
Link:
https://doi.org/10.1016/..
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9
Clinical exome sequencing uncovers a high frequency of Mend..:
Kumar, Runjun D.
;
Meng, Linyan
;
Liu, Pengfei
...
American Journal of Medical Genetics Part A. 188 (2022) 11 - p. 3184-3190 , 2022
Link:
https://doi.org/10.1002/..
?
10
LMOD2‐related dilated cardiomyopathy presenting in late inf..:
Lay, Erica
;
Azamian, Mahshid S.
;
Denfield, Susan W.
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1858-1862 , 2022
Link:
https://doi.org/10.1002/..
?
11
Expansion of the clinical and molecular spectrum of WWOX‐re..:
Chong, Shuk Ching
;
Cao, Ye
;
Fung, Eva L. W.
...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 776-785 , 2022
Link:
https://doi.org/10.1002/..
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12
Sequencing individual genomes with recurrent genomic disord..:
Yuan, Bo
;
Schulze, Katharina V.
;
Assia Batzir, Nurit
...
Genome Medicine. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
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13
Retrospective analysis of a clinical exome sequencing cohor..:
Chen, Chun-An
;
Lattier, John
;
Zhu, Wenmiao
...
Genetics in Medicine. 24 (2022) 2 - p. 364-373 , 2022
Link:
https://doi.org/10.1016/..
?
14
eP462: Detection of clinically relevant exonic copy number ..:
Owen, Nichole
;
Okur, Volkan
;
Anderson, Stephanie
...
Genetics in Medicine. 24 (2022) 3 - p. S291 , 2022
Link:
https://doi.org/10.1016/..
?
15
The multiple de novo copy number variant (MdnCNV) phenomeno..:
Du, Haowei
;
Jolly, Angad
;
Grochowski, Christopher M.
...
Genome Medicine. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
1-15