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CNKI学位论文(15)
在“
SpringerLink电子期刊
”中,
命中:
15
条,耗时:0.0129949 秒
在所有数据库中总计命中:
15
条
1.
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
作者:
Khadim Shah
;
Raja Hussain Ali
;
Muhammad Ansar
;
Kwanghyuk
Lee
…
关键词:
Autosomal recessive
;
Cardiomyopathy
;
Mitral regurgitation
;
MPLKIP
;
Nonphotosensitive
;
Phenotypic expansion
;
Splice mutation
;
Trichothiodystrophy
刊名:BMC Medical Genetics
出版年:2016
2.
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
作者:
Muhammad S. Chishti
;
Attya Bhatti
;
Sana Tamim
;
Kwanghyuk
Lee
;
Merry-Lynn McDonald
;
Suzanne M. Leal and Wasim Ahmad
关键词:
DFNB49
;
TRIC
;
Splice
;
site mutation
刊名:Journal of Human Genetics
出版年:2008
3.
Biometric Key Binding: Fuzzy Vault Based on Iris Images
作者:
Youn Joo
Lee
;
Kwanghyuk
Bae
;
Sung Joo
Lee
;
Kang Ryoung Park
;
Jaihie Kim
关键词:
Fuzzy Vault Scheme
;
Pattern Clustering
;
Independent Component Analysis (ICA)
刊名:Lecture Notes in Computer Science
出版年:2007
4.
Splice-site mutations in the
TRIC
gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
作者:
Muhammad S. Chishti
;
Attya Bhatti
;
Sana Tamim
;
Kwanghyuk
Lee
;
Merry-Lynn McDonald
;
Suzanne M. Leal and Wasim Ahmad
关键词:
DFNB49
;
TRIC
;
Splice
;
site mutation
刊名:Journal of Human Genetics
出版年:2008
5.
Biometric Key Binding: Fuzzy Vault Based on Iris Images
作者:
Youn Joo
Lee
;
Kwanghyuk
Bae
;
Sung Joo
Lee
;
Kang Ryoung Park
;
Jaihie Kim
关键词:
Fuzzy Vault Scheme
;
Pattern Clustering
;
Independent Component Analysis (ICA)
刊名:Lecture Notes in Computer Science
出版年:2007
6.
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
作者:
Gustavo Mendoza
;
Trevor J. Pemberton
;
Kwanghyuk
Lee
;
Raquel Scarel-Caminaga
;
Ruty Mehrian-Shai
;
Catalina Gonzalez-Quevedo
;
Vasiliki Ninis
;
Jaana Hartiala
;
Hooman Allayee and Malcolm L. Snead
;
et al.
刊名:Human Genetics
出版年:2007
7.
Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2–q13.32
作者:
Aamira Tariq
;
Regie Lyn P. Santos
;
Mohammad Nasim Khan
;
Kwanghyuk
Lee
;
Muhammad Jawad Hassan
;
Wasim Ahmad and Suzanne M. Leal
关键词:
Autosomal recessive nonsyndromic hearing impairment
;
DFNB65
;
Pakistan
;
20q13.2–
;
q13.32
刊名:Journal of Molecular Medicine
出版年:2006
8.
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
作者:
Regie Lyn P. Santos
;
Hatem El-Shanti
;
Shaheen Sikandar
;
Kwanghyuk
Lee
;
Attya Bhatti
;
Kai Yan
;
Maria H. Chahrour
;
Nathan McArthur
;
Thanh L. Pham and Amjad Abdullah Mahasneh
;
et al.
关键词:
Autosomal recessive nonsyndromic hearing impairment
;
Jordan
;
Pakistan
;
Prevalence
;
TMIE
刊名:Journal of Molecular Medicine
出版年:2006
9.
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3
作者:
Muhammad Jawad Hassan
;
Regie Lyn P. Santos
;
Muhammad Arshad Rafiq
;
Maria H. Chahrour
;
Thanh L. Pham
;
Muhammad Wajid
;
Nadine Hijab
;
Michael Wambangco
;
Kwanghyuk
Lee
and Muhammad Ansar
;
et al.
刊名:Human Genetics
出版年:2006
10.
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2
作者:
Regie Lyn P. Santos
;
Muhammad Jawad Hassan
;
Shaheen Sikandar
;
Kwanghyuk
Lee
;
Ghazanfar Ali
;
Protacio E. Martin
;
Michael Angelo L. Wambangco
;
Wasim Ahmad and Suzanne M. Leal
刊名:Human Genetics
出版年:2006
1
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