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1 . Academic Journal
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
The American Journal of Human Genetics
4 January 2024 111(1):96-118
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7 . Academic Journal
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
저자
by
Dominguez-Valentin, Mev
;
Haupt, Saskia
;
Seppälä, Toni T.
;
Sampson, Julian R.
;
Sunde, Lone
, et al.
소스
In
eClinicalMedicine
April 2023 58
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7 . Academic Journal
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
저자
by
Gallon, Richard
;
Phelps, Rachel
;
Hayes, Christine
;
Brugieres, Laurence
;
Guerrini-Rousseau, Léa
, et al.
소스
In
Gastroenterology
April 2023 164(4):579-592
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7 . Academic Journal
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
저자
by
Win, Aung Ko
;
Dowty, James G.
;
Reece, Jeanette C.
;
Lee, Grant
;
Templeton, Allyson S.
, et al.
소스
In
The Lancet Oncology
July 2021 22(7):1014-1022
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7 . Periodical
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
저자
by
Schmidt, Axel
;
Danyel, Magdalena
;
Grundmann, Kathrin
;
Brunet, Theresa
;
Klinkhammer, Hannah
, et al.
소스
Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p
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7 . Academic Journal
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
저자
by
Paul, Maimuna S.
;
Michener, Sydney L.
;
Pan, Hongling
;
Chan, Hiuling
;
Pfliger, Jessica M.
, et al.
소스
In
The American Journal of Human Genetics
6 June 2024 111(6):1239-1239
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7 . Academic Journal
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.
저자
by
Wiik, Mariann Unhjem
;
Negline, Mia
;
Beisvåg, Vidar
;
Clapham, Matthew
;
Holliday, Elizabeth
, et al.
소스
Scientific Reports
. 11/1/2023, Vol. 13 Issue 1, p1-10. 10p.
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7 . Academic Journal
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
저자
by
Hassanin, Emadeldin
;
Spier, Isabel
;
Bobbili, Dheeraj R.
;
Aldisi, Rana
;
Klinkhammer, Hannah
, et al.
소스
BMC Medical Genomics
. 3/5/2023, Vol. 16 Issue 1, p1-12. 12p.
Open Access (BioMed Central)
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7 . Academic Journal
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome.
저자
by
Brand, Fabian
;
Vijayananth, Aswinkumar
;
Hsieh, Tzung‐Chien
;
Schmidt, Axel
;
Peters, Sophia
, et al.
소스
Human Mutation; Nov2022, Vol. 43 Issue 11, p1659-1665, 7p
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7 . Academic Journal
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch‐like syndrome and familial colorectal cancer type X.
저자
by
Bucksch, Karolin
;
Zachariae, Silke
;
Ahadova, Aysel
;
Aretz, Stefan
;
Büttner, Reinhard
, et al.
소스
International Journal of Cancer; Jan2022, Vol. 150 Issue 1, p56-66, 11p
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