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内部出版物
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
1.
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family
作者:
Khushnooda Ramzan
;
Faiqa
Imtiaz
;
Khalid Taibah
;
Samir Alnufiee
;
Mohammed Akhtar
;
Selwa A.F. Al-Hazzaa
;
Mohammed Al-Owain
关键词:
COL4A3
;
COL4A4
;
COL4A5
;
genes encoding Homo sapiens type IV collagen (alpha subunits)
;
AS
;
Alport syndrome
;
FH
;
familial haematuria
;
TBMN
;
thin basement membrane nephropathy
;
SNHL
;
sensorineural hearing loss
;
ESRD
;
end-stage renal disease
;
BM
;
basement membrane
;
GBM
;
glomerulus basement membranes
;
MH
;
microscopic hematuria
;
BFH
;
benign familial hematuria
;
CRF
;
chronic renal failure
;
ARAS
;
autosomal-recessive Alport syndrome
;
ADAS
;
autosomal-dominant Alport syndrome
;
SNP
;
single nucleotide polymo
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:March, 2014
2.
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA
作者:
Namik Kaya
;
Mohammad Al-Owain
;
AlB
;
ary AlBakheet
;
Dilek Colak
;
Ali Al-Odaib
;
Faiqa
Imtiaz
;
Serdar Coskun
;
Moeenaldeen Al-Sayed
;
Zuhair Al-Hassnan
;
Hamad Al-Zaidan
;
Brian Meyer
;
Pinar Oz
关键词:
Propionic acidemia
;
PCCA
;
;
//www.sciencedirect.com/scidirimg/entities/223c.gif"" alt=""not
;
vert
;
similar"" title=""not
;
vert
;
similar"" border=""0"">73 kb Deletion
;
18 bp Intronic insertion
;
aCGH
刊名:European Journal of Medical Genetics
出版年:2008
3.
Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture
作者:
Nabil Sabri Enattah
;
Tine G.K. Jensen
;
Mette Nielsen
;
Rikke Lewinski
;
Mikko Kuokkanen
;
Heli Rasinpera
;
Hatem El-Shanti
;
Jeong Kee Seo
;
Michael Alifrangis
;
Insaf F. Khalil
;
Abdrazak Natah
;
Ahmed Ali
;
Sirajedin Natah
;
David Comas
;
S. Qasim Mehdi
;
Leif Groop
;
Else Marie Vestergaard
;
Faiqa
Imtiaz
;
Moham
刊名:The American Journal of Human Genetics
出版年:2008
1
按检索点细分(3)
作者(3)
按出版年细分(3)
2027年及以后(1)
2008年(2)
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