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1 . Academic Journal
P273: Adjusted polygenic score: Translation of a new concept for cardiovascular disease prevention and management
저자
by
Nikolaos Panagiotou
;
Fragkiskos Bersimis
;
Athanasios Fotis
;
Eleni Ntoumou
;
Effie Salata
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100301- (2023)
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7 .
eP219: Genome Sequencing (GS) as a first test in the clinic
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by
Apostolos Psychogios
;
Kalliopi Trachana
.
소스
Genetics in Medicine
. 24:S136
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4 .
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
저자
by
Susan Winter
;
Linford Williams
;
Ganka Douglas
;
Theresa A. Grebe
;
Apostolos Psychogios
, et al.
소스
American Journal of Medical Genetics Part A
. 176:1845-1851
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7 .
One stone, two birds: how a WGS-enabled diagnostic journey transforms into a precision population health service for the 21st century
저자
by
Gregory Roumeliotis
;
Kalliopi Trachana
;
Leroy Hood
;
Apostolos Psychogios
.
소스
Molecular Genetics and Metabolism
. 132:S77-S78
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6 .
A novel deleterious NOTCH2 mutation (c.5422dup) on a female with premature ovarian insufficiency without symptoms of Alagille syndrome 2
저자
by
Apostolos Psychogios
;
Daniel Robie
;
Sami Amr
;
Keith Pelstring
.
소스
Molecular Genetics and Metabolism
. 132:S220-S221
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6 .
POGZ truncating alleles cause syndromic intellectual disability
저자
by
James R. Lupski
;
Richard A. Gibbs
;
Zöe Powis
;
Jing Zhang
;
Donna M. Muzny
, et al.
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Genome Medicine
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7 .
Genetic Testing for Dilated Cardiomyopathy in Clinical Practice
저자
by
Elizabeth Duffy
;
Nancy J. Mendelsohn
;
Jonathan G. Seidman
;
Melanie Care
;
Apostolos Psychogios
, et al.
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7 .
Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis
저자
by
Maureen Murphy-Ryan
;
Noralane M. Lindor
;
Apostolos Psychogios
.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
. 12(6)
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5 .
Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review
저자
by
Noralane M. Lindor
;
Adrianne R Racek
;
Apostolos Psychogios
;
Kari G Rabe
;
Myra J. Wick
.
소스
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 9, Iss 1, p 1 (2011)
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