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1 . Academic Journal
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study
저자
by
Canton, Ana P M
;
Tinano, Flávia R
;
Guasti, Leonardo
;
Montenegro, Luciana R
;
Ryan, Fiona
, et al.
소스
In
The Lancet Diabetes & Endocrinology
August 2023 11(8):545-554
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7 . Academic Journal
Protein structure-based evaluation of missense variants: Resources, challenges and future directions
저자
by
David, Alessia
;
Sternberg, Michael J.E.
.
소스
In
Current Opinion in Structural Biology
June 2023 80
Full Text (ScienceDirect)
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4 . Academic Journal
The effect of adjusting LDL-cholesterol for Lp(a)-cholesterol on the diagnosis of familial hypercholesterolaemia
저자
by
Thayabaran, Darmiga
;
Tsui, Anson P.T.
;
Ebmeier, Stefan
;
Cegla, Jaimini
;
David, Alessia
, et al.
소스
In
Journal of Clinical Lipidology
March-April 2023 17(2):244-254
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7 . Academic Journal
A common TMPRSS2 variant has a protective effect against severe COVID-19
저자
by
David, Alessia
;
Parkinson, Nicholas
;
Peacock, Thomas P
;
Pairo-Castineira, Erola
;
Khanna, Tarun
, et al.
소스
In
Current Research in Translational Medicine
May 2022 70(2)
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7 .
Missense3D-TM: Predicting the Effect of Missense Variants in Helical Transmembrane Protein Regions Using 3D Protein Structures
저자
by
Hanna, Gordon
;
Khanna, Tarun
;
Islam, Suhail A.
;
David, Alessia
;
Sternberg, Michael J.E.
.
소스
In
Journal of Molecular Biology
15 January 2024 436(2)
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7 .
Missense3D-PPI: A Web Resource to Predict the Impact of Missense Variants at Protein Interfaces Using 3D Structural Data
저자
by
Pennica, Cecilia
;
Hanna, Gordon
;
Islam, Suhail A.
;
Sternberg, Michael J.E.
;
David, Alessia
.
소스
In
Journal of Molecular Biology
15 July 2023 435(14)
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7 . Periodical
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification
저자
by
Lagou, Vasiliki
;
Jiang, Longda
;
Ulrich, Anna
;
Zudina, Liudmila
;
González, Karla Sofia Gutiérrez
, et al.
소스
Nature Genetics; September 2023, Vol. 55 Issue: 9 p1448-1461, 14p
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7 . Periodical
Rare variants in the MECP2gene in girls with central precocious puberty: a translational cohort study
저자
by
Canton, Ana P M
;
Tinano, Flávia R
;
Guasti, Leonardo
;
Montenegro, Luciana R
;
Ryan, Fiona
, et al.
소스
The Lancet Diabetes & Endocrinology; August 2023, Vol. 11 Issue: 8 p545-554, 10p
Full Text (ScienceDirect)
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Web of Science
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7 . Periodical
Somatic mutations of CADM1in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production
저자
by
Wu, Xilin
;
Azizan, Elena A. B.
;
Goodchild, Emily
;
Garg, Sumedha
;
Hagiyama, Man
, et al.
소스
Nature Genetics; 20230101, Issue: Preprints p1-13, 13p
Web of Science
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7 . Academic Journal
The SARS-CoV-2 infections in Thailand: Analysis of spike mutations complemented by protein structure insights.
저자
by
Ittisoponpisan, Sirawit
;
Yahangkiakan, Shalip
;
Sternberg, Michael J. E.
;
David, Alessia
.
소스
Songklanakarin Journal of Science & Technology
. Sep/Oct2022, Vol. 44 Issue 5, p1201-1208. 8p.
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