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1 . Academic Journal
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
저자
by
Yuan, Bo
;
Wang, Lei
;
Liu, Pengfei
;
Shaw, Chad
;
Dai, Hongzheng
, et al.
소스
In
Genetics in Medicine
October 2020 22(10):1633-1641
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7 . Academic Journal
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
저자
by
Streff, Haley
;
Bi, Weimin
;
Colón, Athos G.
;
Adesina, Adekunle M.
;
Miyake, Christina Y.
, et al.
소스
In
European Journal of Medical Genetics
November 2019 62(11)
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7 . Academic Journal
P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
저자
by
Saeidian, Amir Hossein
;
Vossaert, Liesbeth
;
Mizerik, Elizabeth
;
Wu, Wilson CW.
;
Dai, Hongzheng
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
저자
by
Kin Chau, Matthew Hoi
;
Anderson, Stephanie
;
Song, Rodger
;
Cooper, Lance
;
Ward, Patricia
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
저자
by
Dardas, Zain
;
Fatih, Jawid M.
;
Jolly, Angad
;
Dawood, Moez
;
Du, Haowei
, et al.
소스
Genome Medicine
. 4/3/2024, Vol. 16 Issue 1, p1-20. 20p.
Open Access (BioMed Central)
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7 . Academic Journal
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
저자
by
Rios, Jonathan J.
;
Li, Yang
;
Paria, Nandina
;
Bohlender, Ryan J.
;
Huff, Chad
, et al.
소스
In
The American Journal of Human Genetics
7 December 2023 110(12):2103-2111
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7 . Academic Journal
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.
저자
by
Odom, John
;
Bacino, Carlos A.
;
Karaviti, Lefkothea P.
;
Bi, Weimin
;
Hoyos-Martinez, Alfonso
.
소스
Journal of Pediatric Endocrinology & Metabolism; Jan2024, Vol. 37 Issue 1, p84-89, 6p
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7 . Academic Journal
P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome
저자
by
Bradley, Catherine
;
Streff, Haley
;
Bi, Weimin
;
Smith, Janice
;
Rosenfeld, Jill
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 .
Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses
저자
by
Kumar, Runjun D.
;
Vossaert, Liesbeth
;
Bi, Weimin
;
Owen, Nichole
;
Rau, Rachel E.
, et al.
소스
In
Cancer Genetics
November 2024 288-289:5-9
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7 . Periodical
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
저자
by
Dardas, Zain
;
Marafi, Dana
;
Duan, Ruizhi
;
Fatih, Jawid M.
;
El-Rashidy, Omnia F.
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-8, 8p
Web of Science
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