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11 .
Additional file 1 of Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
저자
by
Widyastuti, Halida P.
;
Norden-Krichmar, Trina M.
;
Grosberg, Anna
;
Zaragoza, Michael V.
.
소스
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16 .
Additional file 2 of Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
저자
by
Widyastuti, Halida P.
;
Norden-Krichmar, Trina M.
;
Grosberg, Anna
;
Zaragoza, Michael V.
.
소스
Open Access (OpenAIRE)
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16 . Academic Journal
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
저자
by
Marshall, Lauren S.
;
Simon, Julie
;
Wood, Tim
;
Peng, Mei
;
Owen, Renius
, et al.
소스
BMC Medical Genetics
. 2013, Vol. 14 Issue 1, p1-7. 7p. 1 Color Photograph, 2 Graphs.
Open Access (BioMed Central)
Scopus
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17 . Academic Journal
Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle
저자
by
Ronvelia, Diti
;
Greenwood, Jaclyn
;
Platt, Julia
;
Hakim, Simin
;
Zaragoza, Michael V.
.
소스
Molecular Genetics & Metabolism
. Nov2012, Vol. 107 Issue 3, p428-432. 5p.
Full Text (ScienceDirect)
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17 . Academic Journal
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.
저자
by
Zaragoza, Michael V.
;
Brandon, Martin C.
;
Diegoli, Marta
;
Arbustini, Eloisa
;
Wallace, Douglas C.
.
소스
European Journal of Human Genetics
. Feb2011, Vol. 19 Issue 2, p200-207. 8p. 2 Diagrams, 2 Charts, 1 Graph.
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17 . Academic Journal
Adenine Nucleotide Translocase 1 Deficiency Results in Dilated Cardiomyopathy With Defects in Myocardial Mechanics, Histopathological Alterations, and Activation of Apoptosis.
저자
by
Narula, Nupoor
;
Zaragoza, Michael V.
;
Sengupta, Partho P.
;
Li, Peng
;
Haider, Nezam
, et al.
소스
JACC: Cardiovascular Imaging; Jan2011, Vol. 4 Issue 1, p1-10, 10p
Full Text (ScienceDirect)
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17 . Academic Journal
Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing.
저자
by
Zaragoza, Michael V.
;
Fass, Joseph
;
Diegoli, Marta
;
Lin, Dawei
;
Arbustini, Eloisa
.
소스
PLoS ONE
. 2010, Vol. 5 Issue 8, p1-9. 9p. 1 Diagram, 2 Charts, 4 Graphs.
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17 . Academic Journal
A homozygous nonsense mutation inSOX9in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
저자
by
Pop, Ramona
;
Zaragoza, Michael V.
;
Gaudette, Mara
;
Dohrmann, Ulrike
;
Scherer, Gerd
.
소스
Human Genetics
. Jun2005, Vol. 117 Issue 1, p43-53. 11p.
Full Text (Springer)
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17 . Academic Journal
Identification of the TBX5 transactivating domain and the nuclear localization signal
저자
by
Zaragoza, Michael V.
;
Lewis, Lisa E.
;
Sun, Guifeng
;
Wang, Eric
;
Li, Ling
, et al.
소스
Gene
. Apr2004, Vol. 330, p9. 10p.
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17 . Periodical
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns
저자
by
Zaragoza, Michael V.
;
Jacobs, Patricia A.
;
James, Rowena S.
;
Rogan, Peter
;
Sherman, Stephanie
, et al.
소스
Human Genetics; October 1994, Vol. 94 Issue: 4 p411-417, 7p
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