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1 . Academic Journal
Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer
저자
by
Papadimitriou, Nikos
;
Kim, Andre
;
Kawaguchi, Eric S.
;
Morrison, John
;
Diez-Obrero, Virginia
, et al.
소스
In
eBioMedicine
June 2024 104
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7 . Academic Journal
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
저자
by
Ebstein, Frédéric
;
Latypova, Xenia
;
Sharon Hung, Ka Ying
;
Prado, Miguel A.
;
Lee, Byung-Hoon
, et al.
소스
In
Genetics in Medicine
June 2024 26(6)
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7 . Academic Journal
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
저자
by
de Masfrand, Servane
;
Cogné, Benjamin
;
Nizon, Mathilde
;
Deb, Wallid
;
Goldenberg, Alice
, et al.
소스
In
European Journal of Medical Genetics
June 2024 69
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7 . Academic Journal
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
저자
by
Scala, Marcello
;
Khan, Kamal
;
Beneteau, Claire
;
Fox, Rachel G.
;
von Hardenberg, Sandra
, et al.
소스
In
Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Role of CAMK2D in neurodevelopment and associated conditions
저자
by
Rigter, Pomme M.F.
;
de Konink, Charlotte
;
Dunn, Matthew J.
;
Proietti Onori, Martina
;
Humberson, Jennifer B.
, et al.
소스
In
The American Journal of Human Genetics
1 February 2024 111(2):364-382
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7 . Academic Journal
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
저자
by
Deb, Wallid
;
Rosenfelt, Cory
;
Vignard, Virginie
;
Papendorf, Jonas Johannes
;
Möller, Sophie
, et al.
소스
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The American Journal of Human Genetics
May 2024
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7 . Academic Journal
Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images
저자
by
Bourgade, Raphaël
;
Rabilloud, Noémie
;
Perennec, Tanguy
;
Pécot, Thierry
;
Garrec, Céline
, et al.
소스
In
Modern Pathology
November 2023 36(11)
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7 . Academic Journal
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes
저자
by
Wang, Xiaoliang
;
Huyghe, Jeroen R.
;
Joo, Jihoon E.
;
Georgeson, Peter
;
Arndt, Volker
, et al.
소스
In
Gastroenterology
October 2023 165(4):1070-1076
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7 . Academic Journal
Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome
저자
by
Huynh, Minh-Tuan
;
Riteau, Anne-Sophie
;
Moradkhani, Kamran
;
Pichon, Olivier
;
Richard, Sébastien
, et al.
소스
In
European Journal of Medical Genetics
January 2021 64(1)
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7 . Academic Journal
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
저자
by
Vera, Gabriella
;
Sorlin, Arthur
;
Delplancq, Geoffroy
;
Lecoquierre, François
;
Brasseur-Daudruy, Marie
, et al.
소스
In
European Journal of Medical Genetics
October 2020 63(10)
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