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常用资源
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内部出版物
CNKI学位论文(3)
知网期刊论文(7)
在“
SpringerLink电子期刊
”中,
命中:
7
条,耗时:0.0140189 秒
在所有数据库中总计命中:
10
条
1.
Enhanced diagnostic yield in Meckel-Gruber and
Joubert
syndrome
through exome sequencing supplemented with split-read mapping
作者:
Christopher M. Watson
;
Laura A. Crinnion
;
Ian R. Berry…
关键词:
CNV
;
Exome
;
Joubert
;
Meckel
;
Gruber
;
Split
;
read mapping
;
Whole genome sequencing
刊名:BMC Medical Genetics
出版年:2016
2.
KIAA0556 is a novel ciliary basal body component mutated in
Joubert
syndrome
作者:
Anna A. W. M. Sanders
;
Erik de Vrieze
;
Anas M. Alazami
;
Fatema Alzahrani…
关键词:
Joubert
syndrome
;
Cilia
;
KIAA0556
;
K04F10.2
;
Microtubule
;
Katanin
;
Basal body
刊名:Genome Biology
出版年:2015
3.
Educational paper
作者:
Carsten Bergmann (1)
关键词:
Cilia/ciliopathies
;
Cystic kidneys
;
Polycystic kidney disease
;
ADPKD
;
ARPKD
;
Congenital hepatic fibrosis/ductal plate malformation
;
Nephronophthisis (NPHP)
;
Ivemark
syndrome
;
Meckel
syndrome
(MKS)
;
Joubert
syndrome
(
JBTS
)
;
Bardet–Biedl
syndrome
(BBS)
;
Alstrom
syndrome
;
Short
;
rib polydactyly
syndrome
s
;
Jeune
syndrome
(ATD)
;
Ellis
;
van Crefeld
syndrome
(EVC)
;
Sensenbrenner
syndrome
;
Primary ciliary dyskinesia (Kartagener
syndrome
)
;
von Hippel
;
Lindau (VHL)
;
Tuberous sclerosis (TSC)
;
Oligogenic inh
刊名:European Journal of Pediatrics
出版年:2012
4.
Lack of NPHP2 mutations in a newborn infant with
Joubert
syndrome
-related disorder presenting as end-stage renal disease
作者:
Farahnak Assadi
关键词:
Joubert
syndrome
;
Nephronophthisis
;
NPHP2 (INVS) gene
;
End
;
stage
;
renal disease
;
Newborn infant
刊名:Pediatric Nephrology
出版年:2007
5.
Identification of the first AHI1 gene mutations in nephronophthisis-associated
Joubert
syndrome
作者:
Boris Utsch
;
John A. Sayer
;
Massimo Attanasio
;
Rob Rodrigues Pereira
;
Michael Eccles
;
Hans-Christian Hennies
;
Edgar A. Otto and Friedhelm Hildebrandt
关键词:
Joubert
syndrome
;
Renal failure
;
Nephronophthisis
;
AHI1
;
Mutational analysis
刊名:Pediatric Nephrology
出版年:2006
6.
Lack of
NPHP2
mutations in a newborn infant with
Joubert
syndrome
-related disorder presenting as end-stage renal disease
作者:
Farahnak Assadi
关键词:
Joubert
syndrome
;
Nephronophthisis
;
NPHP2 (INVS) gene
;
End
;
stage
;
renal disease
;
Newborn infant
刊名:Pediatric Nephrology
出版年:2007
7.
Identification of the first
AHI1
gene mutations in nephronophthisis-associated
Joubert
syndrome
作者:
Boris Utsch
;
John A. Sayer
;
Massimo Attanasio
;
Rob Rodrigues Pereira
;
Michael Eccles
;
Hans-Christian Hennies
;
Edgar A. Otto and Friedhelm Hildebrandt
关键词:
Joubert
syndrome
;
Renal failure
;
Nephronophthisis
;
AHI1
;
Mutational analysis
刊名:Pediatric Nephrology
出版年:2006
1
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