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内部出版物
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
1.
Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)
作者:
Daniel G. Bichet
;
MD
a
;
b
;
c
;
daniel.bichet@umontreal.ca" class="auth_mail" title="E-mail the corresponding author
;
Detlef
Bockenhauer
;
MD
;
PhD
d
;
d.
bockenhauer
@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
关键词:
Nephrogenic diabetes insipidus
;
X-linked nephrogenic diabetes insipidus
;
Autosomal recessive nephrogenic diabetes insipidus
;
AVPR2
;
AQP2
;
Dehydration
;
Misfolded proteins
;
Cyclic AMP
刊名:Best Practice Research Clinical Endocrinology Metabolism
出版年:2016
2.
Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV
作者:
Lucy Anne Plumb
;
BM
a
;
William van't Hoff
;
MD
a
;
Prof Robert Kleta
;
PhD
a
;
b
;
Chris Reid
;
FRCPCH
c
;
Emma Ashton
;
PhD
a
;
Martin Samuels
;
MD
a
;
Prof
Detlef
Bockenhauer
;
PhD
a
;
b
;
d.
bockenhauer
@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
刊名:The Lancet
出版年:2016
3.
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
作者:
Miriam Schmidts
;
Julia Vodopiutz
;
Sonia Christou-Savina
;
Claudio聽R. Cort茅s
;
Aideen聽M. McInerney-Leo
;
Richard聽D. Emes
;
Heleen聽H. Arts
;
Beyhan T眉ys眉z
;
Jason D鈥橲ilva
;
Paul聽J. Leo
;
Tom聽C. Giles
;
Machteld聽M. Oud
;
Jessica聽A. Harris
;
Marije Koopmans
;
Mhairi Marshall
;
Nursel El莽ioglu
;
Alma Kuechler
;
Detlef
Bockenhauer
;
Anthony聽T. Moore
;
Louise聽C. Wilson
;
et al.
刊名:The American Journal of Human Genetics
出版年:7 November, 2013
4.
Ophthalmological Aspects of Pierson Syndrome
作者:
Cecilie Bredrup
;
Verena Matejas
;
Margaret Barrow
;
Kvě
;
ta Blá
;
hová
;
Detlef
Bockenhauer
;
Darren J. Fowler
;
Richard M. Gregson
;
Iwona Maruniak-Chudek
;
Ana Medeira
;
Erica Laima Mendonç
a
刊名:American Journal of Ophthalmology
出版年:2008
5.
Genomic organization and chromosomal localization of the murine 2 P domain potassium channel gene
Kcnk8
: conservation of gene structure in 2 P domain potassium channels
作者:
Bockenhauer
;
Detlef
;
Nimmakayalu
;
Manjunath A.
;
Ward
;
David C.
;
Goldstein
;
Steve A.N.
;
Gallagher
;
Patrick G.
关键词:
Fluorescence in situ hybridization
;
Intron/exon boundary
;
Fish
;
fluorescence in situ hybridization
;
P
;
pore domain
;
RACE
;
rapid amplification of cDNA ends
;
TM
;
transmembrane domain
刊名:Gene
出版年:2000
1
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