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21 . Academic Journal
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature
저자
by
Mirzaa, Ghayda M.
;
Enyedi, Laura
;
Parsons, Gretchen
;
Collins, Sarah
;
Medne, Livija
, et al.
소스
American Journal Of Medical Genetics - A
. Nov 01, 2014 164(11):2879-2886
Web of Science
Scopus
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27 . Academic Journal
Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy
저자
by
Christian, Susan
;
Atallah, Joseph
;
Clegg, Robin
;
Giuffre, Michael
;
Huculak, Cathleen
, et al.
소스
Journal of Genetic Counseling
. :1-7
Web of Science
Scopus
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27 . Academic Journal
When to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy The Family Perspective
저자
by
Christian, Susan
;
Somerville, Martin
;
Taylor, Sherry
;
Atallah, Joseph
.
소스
CIRCULATION-GENOMIC AND PRECISION MEDICINE
; AUG 2018, 11 8, pe002300 4p.
Full Text (LWW)
Scopus
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26 . Academic Journal
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
저자
by
Zhou, Janet R.
;
Ridsdale, Ross
;
MacNeil, Lauren
;
Lilley, Margaret
;
Hoang, Stephanie
, et al.
소스
International Journal of Neonatal Screening (IJNS); Dec2021, Vol. 7 Issue 4, p78-78, 1p
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27 . Academic Journal
Defining the Role of Laboratory Genetic Counselor.
저자
by
Christian, Susan
;
Lilley, Margaret
;
Hume, Stacey
;
Scott, Patrick
;
Somerville, Martin
.
소스
Journal of Genetic Counseling; Aug2012, Vol. 21 Issue 4, p605-611, 7p
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27 . Academic Journal
Brain tissue oxygen and outcome after severe traumatic brain injury: A systematic review.
저자
by
Maloney-Wilensky, Eileen
;
Gracias, Vicente
;
Itkin, Arthur
;
Hoffman, Katherine
;
Bloom, Stephanie
, et al.
소스
Critical Care Medicine
. Jun2009, Vol. 37 Issue 6, p2057-2063. 7p. 4 Charts.
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27 . Academic Journal
Genetics of autism spectrum disorders.
저자
by
Kumar, Ravinesh
;
Christian, Susan
.
소스
Current Neurology & Neuroscience Reports; May2009, Vol. 9 Issue 3, p188-197, 10p
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24 .
The At Risk Child: An exploration of the journey of children at risk of an inherited arrhythmia or cardiomyopathy and an examination of how age at diagnosis impacts well-being
저자
by
Christian, Susan
.
소스
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23 . Periodical
Abstract 9189: Diagnostic Validity of Genetic Testing for Hypertrophic Cardiomyopathy - A Systematic Review and Meta-Analysis
저자
by
Kelly, Melissa A
;
Cirino, Allison
;
Hansen, Brittany P
;
Harris, Stephanie
;
Murad, Andrea M
, et al.
소스
Circulation (Ovid); November 2021, Vol. 144 Issue: Supplement 1 pA9189-A9189, 1p
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27 . Academic Journal
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
저자
by
Sutcliffe, James S.
;
Nakao, Mitsuyoshi
;
Christian, Susan
;
Örstavik, Karen H.
;
Tommerup, Niels
, et al.
소스
Nature Genetics; Sep1994, Vol. 8 Issue 1, p52-58, 7p
Web of Science
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