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内部出版物
Wiley电子期刊(12)
Springer电子图书(2)
SpringerLink电子期刊(39)
Elsevier电子期刊(52)
在“
Elsevier电子期刊
”中,
命中:
52
条,耗时:0.0159962 秒
在所有数据库中总计命中:
105
条
1.
Kabuki
make-up
syndrome
with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
作者:
Rabah M. Shawky
;
shawkyrabah@yahoo.com
;
Radwa Gamal
;
Nayera Mostafa
关键词:
Kabuki
make-up
syndrome
;
Genitourinary anomalies
;
Hyperpigmentation
;
Mental retardation
刊名:Egyptian Journal of Medical Human Genetics
出版年:2017
2.
Defects of B-cell terminal differentiation in patients with type-1
Kabuki
syndrome
作者:
Andrew W. Lindsley
;
MD
;
PhD
a
;
b
;
andrew.lindsley@cchmc.org" class="auth_mail" title="E-mail the corresponding author
;
Howard M. Saal
;
MD
b
;
c
;
Thomas A. Burrow
;
MD
b
;
c
;
Robert J. Hopkin
;
MD
b
;
c
;
Oleg Shchelochkov
;
MD
d
;
Pooja Khandelwal
;
MD
b
;
e
;
Changchun Xie
;
PhD
f
;
Jack Bleesing
;
MD
;
PhD
b
;
e
;
Lisa Filipovich
;
MD
b
;
e
;
Kimberly Risma
;
MD
;
PhD
a
;
b
;
Amal H. Assa'ad
;
MD
a
;
b
;
Phillip A. Roehrs
;
MD
g
;
Jonathan A. Bernstein
;
MD
h
关键词:
Kabuki
syndrome
;
KMT2D
;
KDM6A
;
hypogammaglobulinemia
;
memory B cells
;
CD21lo B cells
;
class-switch recombination
;
somatic hypermutation
;
PTIP
;
AICDA
;
AID
;
polymerase eta
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
3.
Humoral deficiency in three paediatric patients with genetic diseases
作者:
K. Calvo Campoverde
a
;
E. Gean
b
;
M. Piquer Gibert
a
;
c
;
L. Martinez Valdez
a
;
A. Deyà
;
-Martí
;
nez
a
;
c
;
M. Rojas Volquez
a
;
A. Esteve-Sole
a
;
c
;
M. Juan
c
;
d
;
A.M. Plaza
a
;
c
;
L. Alsina
a
;
c
;
lalsina@hsjdbcn.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Genetic disease
;
Ring chromosome 18
;
Kabuki
syndrome
;
19p13.3 deletion
;
Hypogammaglobulinaemia
;
Humoral deficiency
;
Immune deficiency
;
Chromosome aberration
刊名:Allergologia et Immunopathologia
出版年:2016
4.
Kabuki
Syndrome
with T Cell Dysfunction
作者:
Osman C. Dokmeci
;
MD
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
5.
A Patient with
Kabuki
(Niikawa-Kuroki)
Syndrome
, Common Variable Immunodeficiency and Immune-Mediated Neutropenia Found to Have a Novel Mutation in the KTM2D Gene.
作者:
Neha Dunn
;
MD
1
;
2
;
Rohit Katial
;
MD
;
FAAAAI
1
;
Jenny Stitt
;
MD
3
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
6.
Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) Associated with KMT2D Gene Mutation in
Kabuki
Syndrome
作者:
Juan A. Adams
;
MD
;
Joel L. Gallagher
;
MD
;
Mary Hintermeyer
;
APNP
;
James W. Verbsky
;
MD
;
PhD
;
John M. Routes
;
MD
;
FAAAAI
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
7.
Tu1722 Novel KMT2D Mutation in a Patient With Features of
Kabuki
Syndrome
and Hepatoblastoma
作者:
Kenneth Ng
;
Andras Heczey
刊名:Gastroenterology
出版年:2016
8.
Pilomatricomes pédiatriques au cours d’un
syndrome
de
Kabuki
刊名:Annales de Dermatologie et de Vénéréologie
出版年:2016
9.
PP11.9 - 2265: Disparities in cognitive domains seen in patients with
Kabuki
syndrome
作者:
M. Nakamura
;
N. Kurahashi
;
Y. Muramatsu
;
Y. Tokita
;
N. Miyake
;
N. Matsumoto
;
S. Mizuno
刊名:European Journal of Paediatric Neurology
出版年:2015
10.
Finger creases lend a hand in
Kabuki
syndrome
作者:
Caroline Michot
;
Carole Corsini
;
Damien Sanlaville
;
Clarisse Baumann
;
Annick Toutain
;
Nicole Philip
;
Tiffany Busa
;
Muriel Holder
;
Laurence Faivre
;
Sylvie Odent
;
Marie-Ange Delrue
;
Marianne Till
;
Marie-Line Jacquemont
;
Marie-Pierre Cordier
;
Alice Goldenberg
;
Elodie Sanchez
;
Eudeline Alix
;
Sylvain Poisson
;
Honorine Kayirangwa
;
Didier Lacombe
;
et al.
关键词:
Kabuki
syndrome
;
MLL2
;
Novel clinical feature
;
Finger crease
;
Attenuation
刊名:European Journal of Medical Genetics
出版年:2013
1
2
3
4
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