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内部出版物
SpringerLink电子期刊(2)
Elsevier电子期刊(4)
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
作者:
Maimoona?A. Zariwala
;
Heon?Yung Gee
;
Ma?gorzata Kurkowiak
;
Dalal?A. Al-Mutairi
;
Margaret?W. Leigh
;
Toby?W. Hurd
;
Rim Hjeij
;
Sharon?D. Dell
;
Moumita
Chaki
;
Gerard?W. Dougherty
;
Mohamed Adan
;
Philip?C. Spear
;
Julian Esteve-Rudd
;
Niki?T. Loges
;
Margaret Rosenfeld
;
Katrina A. Diaz
;
Heike Olbrich
;
Whitney?E. Wolf
;
Eamonn Sheridan
;
Trevor?F.C. Batten
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
2.
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
作者:
Christina Austin-Tse
;
Jan Halbritter
;
Maimoona?A. Zariwala
;
Ren¨¦e?M. Gilberti
;
Heon?Yung Gee
;
Nathan Hellman
;
Narendra Pathak
;
Yan Liu
;
Jennifer?R. Panizzi
;
Ramila?S. Patel-King
;
Douglas Tritschler
;
Raqual Bower
;
Eileen O¡¯Toole
;
Jonathan D. Porath
;
Toby?W. Hurd
;
Moumita
Chaki
;
Katrina?A. Diaz
;
Stefan Kohl
;
Svjetlana Lovric
;
Daw-Yang Hwang
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
3.
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
作者:
Moumita
Chaki
;
Rannar Airik
;
Amiya?K. Ghosh
;
Rachel?H. Giles
;
Rui Chen
;
Gisela?G. Slaats
;
Hui Wang
;
Toby?W. Hurd
;
Weibin Zhou
;
Andrew Cluckey
;
Heon Yung Gee
;
Gokul Ramaswami
;
Chen-Jei Hong
;
Bruce?A. Hamilton
;
Igor ?ervenka
;
Ranjani?Sri Ganji
;
Vitezslav Bryja
;
Heleen?H. Arts
;
Jeroen van?Reeuwijk
;
Machteld?M. Oud
;
et al.
刊名:Cell
出版年:2012
4.
Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1
作者:
Kunal Ray
;
Moumita
Chaki
;
Mainak Sengupta
关键词:
Albinism
;
Oculocutaneous albinism type 1
;
OCA1
;
Tyrosinase
;
TYR
刊名:Progress in Retinal and Eye Research
出版年:2007
1
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