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1 . Academic Journal
Barriers to g BRCA Testing in High-Risk HER2-Negative Early Breast Cancer.
저자
by
Foroughi, Olivia
;
Madraswala, Shaheen
;
Hayes, Jennifer
;
Glover, Kara
;
Lee, Liam
, et al.
소스
Journal of Personalized Medicine
. Aug2023, Vol. 13 Issue 8, p1228. 14p.
Web of Science
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7 . Academic Journal
Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1
저자
by
Ray, Kunal
;
Chaki, Moumita
;
Sengupta, Mainak
.
소스
In
Progress in Retinal and Eye Research
2007 26(4):323-358
Full Text (ScienceDirect)
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5 . Academic Journal
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE
2
production.
저자
by
Jili Zhu
;
Chaki, Moumita
;
Dongmei Lu
;
Chongyu Ren
;
Shan-Shan Wang
, et al.
소스
American Journal of Physiology: Renal Physiology
. May2016, Vol. 310 Issue 9, pF895-F908. 14p.
Web of Science
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7 . Periodical
Loss of Glis2/NPHP7causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease
저자
by
Lu, Dongmei
;
Rauhauser, Alysha
;
Li, Binghua
;
Ren, Chongyu
;
McEnery, Kayla
, et al.
소스
Kidney International; June 2016, Vol. 89 Issue: 6 p1307-1323, 17p
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7 . Periodical
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2production
저자
by
Zhu, Jili
;
Chaki, Moumita
;
Lu, Dongmei
;
Ren, Chongyu
;
Wang, Shan-Shan
, et al.
소스
American Journal of Physiology - Renal Physiology; May 2016, Vol. 310 Issue: 9 pF895-F908, 14p
Web of Science
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7 . Academic Journal
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
저자
by
Gee, Heon Yung
;
Otto, Edgar A
;
Hurd, Toby W
;
Ashraf, Shazia
;
Chaki, Moumita
, et al.
소스
Kidney International
. Apr2014, Vol. 85 Issue 4, p880-887. 8p. 1 Color Photograph, 1 Chart, 1 Graph.
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7 . Academic Journal
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
저자
by
Austin-Tse, Christina
;
Halbritter, Jan
;
Zariwala, Maimoona?A.
;
Gilberti, Renée?M.
;
Gee, Heon?Yung
, et al.
소스
American Journal of Human Genetics
. Oct2013, Vol. 93 Issue 4, p672-686. 15p.
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7 . Academic Journal
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6.
저자
by
Zariwala, Maimoona?A.
;
Gee, Heon?Yung
;
Kurkowiak, Małgorzata
;
Al-Mutairi, Dalal?A.
;
Leigh, Margaret?W.
, et al.
소스
American Journal of Human Genetics
. Aug2013, Vol. 93 Issue 2, p336-345. 10p.
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7 . Academic Journal
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
저자
by
Halbritter, Jan
;
Porath, Jonathan
;
Diaz, Katrina
;
Braun, Daniela
;
Kohl, Stefan
, et al.
소스
Human Genetics
. Aug2013, Vol. 132 Issue 8, p865-884. 20p.
Full Text (Springer)
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7 . Academic Journal
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
저자
by
Halbritter, Jan
;
Diaz, Katrina
;
Chaki, Moumita
;
Porath, Jonathan D
;
Tarrier, Brendan
, et al.
소스
Journal of Medical Genetics
. Dec 01, 2012 49(12):756-767
Full Text (BMJ Journals)
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