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1 . Academic Journal
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
저자
by
Daniela Matuozzo
;
Estelle Talouarn
;
Astrid Marchal
;
Peng Zhang
;
Jeremy Manry
, et al.
소스
Genome Medicine, Vol 16, Iss 1, Pp 1-3 (2024)
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7 . Academic Journal
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
저자
by
Shujuan Zhao
;
Kedous Y. Mekbib
;
Martijn A. van der Ent
;
Garrett Allington
;
Andrew Prendergast
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
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7 . Academic Journal
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
저자
by
Daniela Matuozzo
;
Estelle Talouarn
;
Astrid Marchal
;
Peng Zhang
;
Jeremy Manry
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
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7 . Academic Journal
Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities
저자
by
Gabriel Stölting
;
Hoang An Dinh
;
Marina Volkert
;
Nicole Hellmig
;
Julia Schewe
, et al.
소스
JCI Insight, Vol 8, Iss 20 (2023)
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7 . Academic Journal
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia
저자
by
Weilai Dong
;
Karen H.Y. Wong
;
Youbin Liu
;
Michal Levy-Sakin
;
Wei-Chien Hung
, et al.
소스
Journal of Lipid Research, Vol 63, Iss 6, Pp 100209- (2022)
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7 . Academic Journal
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
저자
by
Weilai Dong
;
Hande Kaymakcalan
;
Sheng Chih Jin
;
Nicholas S. Diab
;
Cansaran Tanıdır
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
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7 . Academic Journal
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
저자
by
Youying Mao
;
Ronen Schneider
;
Peter F.M. van der Ven
;
Marvin Assent
;
Keerthika Lohanadan
, et al.
소스
Kidney International Reports, Vol 6, Iss 2, Pp 472-483 (2021)
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7 . Academic Journal
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
저자
by
Verena Klämbt
;
Youying Mao
;
Ronen Schneider
;
Florian Buerger
;
Hanan Shamseldin
, et al.
소스
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
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7 . Academic Journal
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
저자
by
Alexander Hsieh
;
Sarah U. Morton
;
Jon A. L. Willcox
;
Joshua M. Gorham
;
Angela C. Tai
, et al.
소스
Genome Medicine, Vol 12, Iss 1, Pp 1-18 (2020)
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7 . Academic Journal
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
저자
by
Zeeshan Gauhar
;
Leon Tejwani
;
Uzma Abdullah
;
Sadia Saeed
;
Shagufta Shafique
, et al.
소스
Cells, Vol 11, Iss 19, p 3090 (2022)
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