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内部出版物
Wiley电子期刊(10)
ProQuest学位论文(6)
ACS电子期刊(2)
SpringerLink电子期刊(304)
Elsevier电子期刊(917)
在“
Wiley电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1,239
条
1.
Familial Gordon syndrome associated with a
PIEZO2
mutation
作者:
Franz Alisch
;
Alexander Weichert
;
Karim Kalache
;
Viola Paradiso
;
Ann Carolin Longardt
;
Christof Dame
;
Katrin Hoffmann and Denise Horn
刊名:American Journal of Medical Genetics Part A
出版年:2017
2.
Incomplete Timothy syndrome secondary to a mosaic mutation of the
CACNA1C
gene diagnosed using next-generation sequencing
作者:
Amandine Baurand
;
Sylvie Falcon-Eicher
;
Gabriel Laurent
;
Elisabeth Villain
;
Caroline Bonnet
;
Christel Thauvin-Robinet
;
Caroline Jacquot
;
Jean-Christophe Eicher
;
Jean-Baptiste Gourraud
;
Sé
;
bastien Schmitt
;
Sté
;
phane Bé
;
zieau
;
Mathilde Giraud
;
Solenne Dumont
;
Paul Kuentz
;
Vincent Probst
;
Antoine Burguet
;
Florence Kyndt and Laurence Faivre
刊名:American Journal of Medical Genetics Part A
出版年:2017
3.
TBCK-related intellectual disability syndrome: Case study of two patients
作者:
Hanna Mandel
;
Morad Khayat
;
Elana Chervinsky
;
Orly Elpeleg and Stavit Shalev
刊名:American Journal of Medical Genetics Part A
出版年:2017
4.
Autosomal recessive truncating
MAB21L1
mutation associated with a syndromic scrotal agenesis
作者:
A.-L. Bruel
;
A. Masurel-Paulet
;
J.-B. Riviè
;
re
;
Y. Duffourd
;
D. Lehalle
;
C. Bensignor
;
F. Huet
;
J. Borgnon
;
F. Roucher
;
P. Kuentz
;
J.-F. Deleuze
;
C. Thauvin-Robinet
;
L. Faivre and J. Thevenon
刊名:Clinical Genetics
出版年:2017
5.
Psychomotor
development
al effects of prenatal exposure to psychotropic drugs: a study in EFEMERIS database
作者:
Caroline Hurault-Delarue
;
Christine Damase-Michel
;
Laurent Finotto
;
Claudine Guitard
;
Christophe Vayssiè
;
re
;
Jean-Louis Montastruc
;
Franç
;
ois Montastruc and Isabelle Lacroix
刊名:Fundamental & Clinical Pharmacology
出版年:2016
6.
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta
作者:
Takumi Shibazaki
;
Koichi Hirabayashi
;
Shoji Saito
;
Tomonari Shigemura
;
Yozo Nakazawa
;
Kazuo Sakashita
;
Mineo Takagi
;
Masaaki Shiohara
;
Kaori Adachi
;
Eiji Nanba
;
Norio Sakai and Kenichi Koike
关键词:
mucolipidosis II
;
cord blood transplantation
;
psychomotor
development
;
plasma lysosomal enzyme activity
刊名:American Journal of Medical Genetics Part A
出版年:2016
7.
Maternal drug or alcohol abuse is associated with decreased head size from mid-pregnancy to childhood
作者:
Anni Lehikoinen
;
Maija-Riitta Ordé
n ;
Seppo Heinonen and Raimo Voutilainen
刊名:Acta Paediatrica
出版年:2016
8.
SATB2-associated syndrome presenting with Rett-like phenotypes
作者:
J.S. Lee
;
Y. Yoo
;
B.C. Lim
;
K.J. Kim
;
M. Choi and J.-H. Chae
刊名:Clinical Genetics
出版年:2016
9.
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood
作者:
Denise Horn
;
Bernhard Weschke
;
Ellen Knierim
;
Bjö
;
rn Fischer-Zirnsak
;
Werner Stenzel
;
Markus Schuelke and Tomasz Zemojtel
刊名:American Journal of Medical Genetics Part A
出版年:2016
10.
Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology
作者:
A. Charzewska
;
J. Wierzba
;
E. Iżycka-Świeszewska
;
M. Bekiesińska-Figatowska
;
M. Jurek
;
A. Gintowt
;
A. Kłosowska
;
J. Bal and D. Hoffman-Zacharska
刊名:Clinical Genetics
出版年:2016
1
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