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1 . Academic Journal
Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
저자
by
Ryan J. German
;
Blake Vuocolo
;
Liesbeth Vossaert
;
Nichole Owen
;
Richard A. Lewis
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
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7 . Academic Journal
P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome
저자
by
Liesbeth Vossaert
;
Nichole Owen
;
Hongzheng Dai
;
Eric Kao
;
Xiaonan Zhao
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101193- (2024)
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7 . Academic Journal
P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases
저자
by
Blake Vuocolo
;
Ryan German
;
Carlos Bacino
;
Chaya Murali
;
Seema Lalani
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101394- (2024)
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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
Matthew Hoi Kin Chau
;
Stephanie Anderson
;
Rodger Song
;
Lance Cooper
;
Patricia Ward
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101499- (2024)
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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
Amir Hossein Saeidian
;
Liesbeth Vossaert
;
Elizabeth Mizerik
;
Wilson CW. Wu
;
Hongzheng Dai
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101586- (2024)
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7 . Academic Journal
P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death
저자
by
Eric Kao
;
Elizabeth Mizerik
;
Yishay Ben Moshe
;
Nichole Owen
;
Liesbeth Vossaert
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101604- (2024)
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7 . Academic Journal
P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly
저자
by
Nichole Owen
;
Liesbeth Vossaert
;
Lorraine Potocki
;
Elizabeth Mizerik
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101607- (2024)
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6 . Academic Journal
P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis
저자
by
Dan Brooks
;
Elizabeth Mizerik
;
Liesbeth Vossaert
;
Seema Lalani
;
Monika Weisz-Hubshman
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101785- (2024)
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7 . Academic Journal
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
저자
by
Cara P. Ford
;
Rebecca O. Littlejohn
;
Ryan German
;
Blake Vuocolo
;
Jose Aceves
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
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7 . Academic Journal
P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
저자
by
Matthew Hoi Kin Chau
;
Elizabeth Mizerik
;
Laurie Robak
;
Pengfei Liu
;
Liesbeth Vossaert
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100486- (2023)
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