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1 . Academic Journal
P375: Case study: Germline chromoanagenesis associated with global developmental delay, dysmorphic features and failure to thrive
저자
by
Priya Bhola
;
Aren Marshall
;
Melanie Beaulieu Bergeron
;
Kym Boycott
;
Jean McGowan-Jordan
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101269- (2024)
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7 . Academic Journal
P642: Development and deployment of clinical genome sequencing using a cloud-based platform
저자
by
Lynette Lau
;
Edward Higginbotham
;
Wilson Sung
;
Venuja Sriretnakumar
;
Meredith Curtis
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101548- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
ALU transposition induces familial hypertrophic cardiomyopathy
저자
by
Landry Nfonsam
;
Lijia Huang
;
Nancy Carson
;
Jean McGowan‐Jordan
;
Melanie Beaulieu Bergeron
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
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7 .
Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion
저자
by
Alison M. R. Castle
;
Michele L. Ramien
;
Nordau Kanigsberg
;
Dina El Demellawy
;
Jean McGowan‐Jordan
, et al.
소스
Pediatric Dermatology
. 39:107-111
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7 .
Genetic Diagnostic Testing for Inherited Cardiomyopathies
저자
by
D Lahey
;
Gabrielle Mettler
;
Hussein Daoud
;
Nasim Vasli
;
Nathaniel Santos
, et al.
소스
The Journal of Molecular Diagnostics
. 21:437-448
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7 .
ALU transposition induces familial hypertrophic cardiomyopathy
저자
by
Susan Conacher
;
Landry Nfonsam
;
Nancy Carson
;
Lijia Huang
;
Ryan Potter
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
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7 .
A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion
저자
by
Melanie Lacaria
;
Dina El Demellawy
;
Jean McGowan-Jordan
.
소스
Cancer Genetics
. :100-104
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5 .
Update on molecular findings in rhabdomyosarcoma
저자
by
Dina El Demellawy
;
Jean McGowan-Jordan
;
Ahmed Nasr
;
Joseph de Nanassy
;
Elizaveta Chernetsova
.
소스
Pathology
. 49:238-246
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7 .
Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings
저자
by
Jean McGowan-Jordan
;
Dina El Demellawy
;
James Lee
;
Ahmed Nasr
;
Laura M McDonell
, et al.
소스
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
. 22(4)
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7 .
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
저자
by
Dina J. Zand
;
Michael T. Geraghty
;
Bob Argiropoulos
;
Jean McGowan-Jordan
;
Xu Li
, et al.
소스
American Journal of Medical Genetics Part A
. 170:967-977
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