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1 . Academic Journal
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay
저자
by
Giavanna Verdi
;
Dong Li
;
Sarah H. Elsea
;
Beverly Nelson
;
Elizabeth J. Bhoj
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Open Access (Wiley)
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Web of Science
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7 . Academic Journal
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
저자
by
Avinash V. Dharmadhikari
;
Rajarshi Ghosh
;
Bo Yuan
;
Pengfei Liu
;
Hongzheng Dai
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family
저자
by
Wayne Thompson
;
Patrick Z. Carey
;
Tyhiesia Donald
;
Beverly Nelson
;
Elizabeth J. Bhoj
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Open Access (Wiley)
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Web of Science
Scopus
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7 . Academic Journal
Identification of novel candidate disease genes from de novo exonic copy number variants
저자
by
Tomasz Gambin
;
Bo Yuan
;
Weimin Bi
;
Pengfei Liu
;
Jill A. Rosenfeld
, et al.
소스
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Cover
저자
by
Giavanna Verdi
;
Dong Li
;
Sarah H. Elsea
;
Beverly Nelson
;
Elizabeth J. Bhoj
, et al.
소스
Mol Genet Genomic Med
Open Access (OpenAIRE)
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7 .
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community
저자
by
Ghayda M. Mirzaa
;
Stefan M. Pulst
;
John C. Carey
;
Sarah H. Elsea
;
Dong Li
, et al.
소스
Am J Med Genet C Semin Med Genet
American journal of medical genetics. Part C, Seminars in medical genetics, vol 184, iss 4
Open Access (OpenAIRE)
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Scopus
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7 .
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
저자
by
Wenmiao Zhu
;
Linyan Meng
;
Patricia A. Ward
;
Richard A. Gibbs
;
Rui Xiao
, et al.
소스
Genet Med
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay
저자
by
Giavanna Verdi
;
Dong Li
;
Sarah H. Elsea
;
Beverly Nelson
;
Elizabeth J. Bhoj
, et al.
소스
Molecular geneticsgenomic medicine
. 10(4)
Open Access (Wiley)
Open Access (OpenAIRE)
Scopus
JCR 저널정보
요약보기
Export
E-Mail
EndNote
RefWorks
7 .
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
저자
by
Leah Slattery
;
Emma L. Baple
;
Hilde Van Esch
;
Eyby Leon
;
Farida Abid
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family
저자
by
Sarah H. Elsea
;
Patrick Z. Carey
;
Andrew K. Sobering
;
Beverly Nelson
;
Maricela A. Ramirez
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Open Access (Wiley)
Open Access (OpenAIRE)
Scopus
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