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内部出版物
CNKI学位论文(18)
知网期刊论文(29)
在“
Elsevier电子期刊
”中,
命中:
66
条,耗时:0.0210187 秒
在所有数据库中总计命中:
47
条
1.
Évaluation psycho-sociocognitive des enfants et adolescents présentant un
Syndrome
de
Shwachman
-
Diamond
: étude pilote
作者:
Oriane Pastore
1
;
oriane.pastore@gmail.com
;
Martine Batt
1
;
Marie Canton
2
;
3
;
Alain Trognon
1
;
Christine Bocé
;
ré
;
an
4
;
Fanny Fouyssac
2
;
Emmanuel Raffo
2
;
5
;
Blandine Beaupain
6
;
Jean Donadieu
6
刊名:Revue d'Oncologie Hématologie Pédiatrique
出版年:2016
2.
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of
Shwachman
-
Diamond
Syndrome
作者:
Waruenada Kanprasoet
a
;
1
;
Laran T. Jensen
b
;
1
;
Suwimon Sriprach
a
;
Kanate Thitiananpakorn
c
;
Khanti Rattanapornsompong
b
;
Amornrat Naranuntarat Jensen
a
;
amornrat.nar@mahidol.ac.th" class="auth_mail" title="E-mail the corresponding author
关键词:
Shwachman
-
Diamond
syndrome
;
Oxidative stress
;
Yeast
;
Porin
;
Mitochondria
刊名:Journal of Genetics and Genomics
出版年:2015
3.
Variable Clinical Presentation of
Shwachman
-
Diamond
Syndrome
: Update from the North American Shwachman-Diamond Syndrome Registry
作者:
Kasiani C. Myers
;
MD
1
;
Audrey Anna Bolyard
;
RN
;
BS
2
;
Barbara Otto
;
MN
;
MS
3
;
Trisha E. Wong
;
MD
;
MS
4
;
5
;
6
;
Amanda T. Jones
3
;
Richard E. Harris
;
MD
1
;
Stella M. Davies
;
MBBS
;
PhD
1
;
David C. Dale
;
MD
3
;
Akiko Shimamura
;
MD
;
PhD
5
;
6
;
7
;
ashimamu@fhcrc.org" class="auth_mail
关键词:
AML
;
Acute myeloid leukemia
;
CT
;
Computed tomography
;
MDS
;
Myelodysplasia
;
SBDS
;
Shwachman
&ndash
;
Bodian&ndash
;
Diamond
syndrome
;
SDS
;
Shwachman
&ndash
;
Diamond
syndrome
;
SDSR
;
Shwachman
&ndash
;
Diamond
Syndrome
Registry
刊名:The Journal of Pediatrics
出版年:April, 2014
4.
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the
Shwachman
-
Diamond
Syndrome
作者:
Abril Gijsbers
;
Adri¨¢n Garc¨ªa-M¨¢rquez
;
Axel Luviano
;
Nuria S¨¢nchez-Puig
关键词:
GTPase
;
Guanine exchange factor
;
EFL1
;
Shwachman
&ndash
;
Diamond
Syndrome
protein
刊名:Biochemical and Biophysical Research Communications
出版年:2013
5.
Aggressive Myeloid Sarcoma Causing Recurrent Spinal Cord Compression
作者:
Jacob R. Joseph
1
;
D. Andrew Wilkinson
1
;
Nathanael G. Bailey
2
;
Andrew P. Lieberman
2
;
Christina I. Tsien
3
;
Daniel A. Orringer
1
;
dorringe@med.umich.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Myeloid sarcoma
;
Spinal cord compression
刊名:World Neurosurgery
出版年:2015
6.
G.P.301 - Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of
Shwachman
-
Diamond
syndrome
刊名:Neuromuscular Disorders
出版年:2015
7.
Endocrine Evaluation of Children with and without
Shwachman
-Bodian-
Diamond
Syndrome
Gene Mutations and Shwachman-Diamond Syndrome
作者:
Kasiani C. Myers
;
MD
1
;
Susan R. Rose
;
MD
2
;
Meilan M. Rutter
;
MB
;
BCh
;
FRACP
2
;
Parinda A. Mehta
;
MD
1
;
Jane C. Khoury
;
PhD
3
;
Theresa Cole
;
RN
1
;
Richard E. Harris
;
MD
1
关键词:
BMI
;
Body mass index
;
FSH
;
Follicle-stimulating hormone
;
FT4
;
Free thyroxine
;
GH
;
Growth hormone
;
GHD
;
Growth hormone deficiency
;
HbA1c
;
Glycosylated hemoglobin
;
HCT
;
Hematopoietic cell transplantation
;
IGF-I
;
Insulin-like growth factor-1
;
OGTT
;
Oral gluc
刊名:The Journal of Pediatrics
出版年:2013
8.
Subglottic stenosis in
Shwachman
-
Diamond
syndrome
- Is there a link?
作者:
S. Keereweer
;
I.M. Appel
;
L.J. Hoeve
关键词:
Subglottic stenosis
;
Shwachman
-
Diamond
syndrome
;
Shwachman
syndrome
;
Shwachman
-Bodian-
Diamond
syndrome
;
Cartilaginous
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2012
9.
Clinical and Molecular Pathophysiology of
Shwachman
-
Diamond
Syndrome
: An Update
作者:
Kasiani C. Myers
;
MD
a
;
kasiani.myers@cchmc.org
;
Stella M. Davies
;
MBBS
;
PhD
;
MRCP
b
;
Akiko Shimamura
;
MD
;
PhD
c
关键词:
Bone marrow failure
;
Shwachman
&ndash
;
diamond
syndrome
;
Ribosomes
刊名:Hematology/Oncology Clinics of North America
出版年:2013
10.
Cardiomyopathies and congenital heart diseases in
Shwachman
-
Diamond
syndrome
: A national survey
作者:
Quentin Hauet
;
Bl
;
ine Beaupain
;
Maguy Micheau
;
Monique Blayo
;
Virginie G
;
emer
;
Fr¨¦d¨¦ric Gottr
;
Nicolas Blin
;
Fanny Fouyssac
;
Jean Paul Lethor
;
Christine Bellann¨¦-Chantelot
;
Damien Bonnet
;
Jean Donadieu
关键词:
Shwachman
&ndash
;
Diamond
syndrome
;
Cardiomyopathy
;
Congenital heart diseases
刊名:International Journal of Cardiology
出版年:2013
1
2
3
4
5
6
7
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