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Elsevier电子期刊(100)
在“
Elsevier电子期刊
”中,
命中:
100
条,耗时:小于0.01 秒
在所有数据库中总计命中:
100
条
1.
Failure of tooth eruption and
brachydactyly
in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels
作者:
Mariana Tenorio Antunes Reis
a
;
marianareis@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Diogo Toledo Matias
b
;
diogo.matias@hc.fm.usp.br" class="auth_mail" title="E-mail the corresponding author
;
Maria Estela Justamante de Faria
b
;
mejfaria@uol.com.br" class="auth_mail" title="E-mail the corresponding author
;
Regina Matsunaga Martin
a
;
reginamm@usp.br" class="auth_mail" title="E-mail the corresponding author
关键词:
FTE
;
failure of tooth eruption
;
DPR
;
dental panoramic radiography
;
BDE
;
brachydactyly
type E.
刊名:Bone
出版年:2016
2.
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
作者:
Dong-chuan Guo
1
;
13
;
Xue-Yan Duan
1
;
13
;
Ellen S. Regalado
1
;
Lauren Mellor-Crummey
1
;
Callie S. Kwartler
1
;
Dong Kim
2
;
Kenneth Lieberman
3
;
Bert B.A. de Vries
4
;
Rolph Pfundt
4
;
Albert Schinzel
5
;
Dieter Kotzot
6
;
Xuetong Shen
7
;
Min-Lee Yang
8
;
University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:2017
3.
Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease
作者:
Takashi Iijima
;
MD
a
;
Junichi Hoshino
;
MD
;
MPH
a
;
hoshino@toranomon.gr.jp" class="auth_mail" title="E-mail the corresponding author
;
Koki Mise
;
MD
a
;
Keiichi Sumida
;
MD
a
;
Tatsuya Suwabe
;
MD
;
PhD
a
;
Noriko Hayami
;
MD
a
;
Toshiharu Ueno
;
MD
;
PhD
a
;
Kenmei Takaichi
;
MD
;
PhD
a
;
b
;
Takeshi Fujii
;
MD
;
PhD
c
;
Kenichi Ohashi
;
MD
;
PhD
c
;
e
;
Naoya Morisada
;
MD
;
PhD
d
;
Kazumoto Iijima
;
MD
;
PhD
d
;
Yoshifumi Ubara
;
MD
;
PhD
a
;
b
关键词:
Orofaciodigital syndrome type 1
;
Glomerulocystic kidney disease
;
X-linked dominant inheritance
;
Polycystic kidney disease
;
Canine defect
;
Brachydactyly
刊名:Human Pathology
出版年:2016
4.
A novel CHSY1 gene mutation underlies Temtamy preaxial
brachydactyly
syndrome in a Pakistani family
作者:
Gulab Sher
;
Muhammad Naeem
关键词:
Brachydactyly
;
BMP
;
Signaling
;
Syndrome
;
CHSY1
;
Mutation
刊名:European Journal of Medical Genetics
出版年:January, 2014
5.
A novel mutation in CDMP1 causes
brachydactyly
type C with ¡°angel-shaped phalanx¡±. A genotype-phenotype correlation in the mutational spectrum
作者:
Bianca Ethel Guti¨¦rrez-Amavizca
;
Aniel Jessica Leticia Brambila-Tapia
;
Clara Ibet Ju¨¢rez-V¨¢zquez
;
Muriel Holder-Espinasse
;
Sylvie Manouvrier-Hanu
;
Fabienne Esc
e ;
Patricio Barros-N¨²?ez
关键词:
Brachydactyly
type C
;
BDC
;
Angel-shaped phalanx
;
CDPM1 mutation
;
Angel-shaped phalango-epiphyseal dysplasia
;
ASPED
刊名:European Journal of Medical Genetics
出版年:2012
6.
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones,
brachydactyly
, and hypotrichosis in two consanguineous Arab families
作者:
Stavit A. Shalev
a
;
b
;
stavit_sh@clalit.org.il
;
Ronen Spiegel
a
;
b
;
Zvi U. Borochowitz
b
;
c
关键词:
Autosomal recessive
;
Disproportionate short stature
;
Brachydactyly
刊名:European Journal of Medical Genetics
出版年:2012
7.
Absence of nasal bone and
brachydactyly
: A probable new familial syndrome
作者:
Hong Guo
;
Rui Heng Wang
;
Yun Bai
;
Dong Yun Yang
关键词:
OMIM
;
Online Mendelian Inheritance in Man
;
CT
;
Computed Tomography
;
CGH
;
Comparative Genomic Hybridization
;
HOXD13
;
Homeobox D13
;
CNVs
;
Copy Number Variations
;
FND1
;
Frontonasal Dysplasia-1
;
GCM syndrome
;
Gorlin-Chaudhry-Moss syndrome
刊名:Gene
出版年:2013
8.
Metaphyseal Dysplasia with Maxillary Hypoplasia and
Brachydactyly
Is Caused by a Duplication in RUNX2
作者:
Pierre Moffatt
1
;
2
;
7
;
Mouna Ben Amor
1
;
7
;
Francis H. Glorieux
1
;
2
;
Paul Roschger
3
;
Klaus Klaushofer
3
;
Jeremy A. Schwartzentruber
4
;
Andrew D. Paterson
5
;
Pingzhao Hu
5
;
Christian Marshall
5
;
FORGE Canada Consortium
8
刊名:The American Journal of Human Genetics
出版年:2013
9.
Brachydactyly
, anonychia and a deformed nasal tip in a 16-year-old girl: A case report
作者:
Jaap G.H. Poerink
a
;
Moshe Kon
;
a
;
m.kon@umcutrecht.nl"" rel=""nofollow
;
L.P. van Minnen
a
关键词:
Anonychia
;
Brachydactyly
;
Cooks syndrome
;
Nasal deformation
;
Facial dysmorphology
刊名:Journal of Plastic, Reconstructive Aesthetic Surgery
出版年:2011
10.
Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q)
作者:
Sung Han Shim
;
Jae Sun Shim
;
Kyunghoon Min
;
Hee Song Lee
;
Ji Eun Park
;
Sang Hee Park
;
Euna Hwang
;
MinYoung Kim
关键词:
GDD
;
global developmental delay
;
ID
;
intellectual disability
;
ASD
;
autistic spectrum disorder
;
IQ
;
intelligence quotient
;
FISH
;
fluorescent in situ hybridization
;
MLPA
;
multiplex ligation dependent probe amplification
;
VIPR2
;
vasoactive intestinal peptide receptor 2
;
GTG
;
guanine thymine guanine
;
CGH
;
comparative genomic hybridization
;
DNA
;
deoxyribonucleic acid
;
der
;
derivative chromosome
;
mat
;
maternal origin
;
BDMR
;
brachydactyly
mental retardation syndrome
;
AHO
;
Albright hereditary osteodystr
刊名:Gene
出版年:15 January, 2014
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