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内部出版物
SpringerLink电子期刊(3)
在“
SpringerLink电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
Erratum: Emerging topics in FXTAS
作者:
Deborah A Hall (1)
Rachael C Birch (
2
)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joan A O鈥橩eefe (8)
Julian N Trollor (13) (
2
)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (1
2
)
1.
Department
of
Neurological Sciences
;
Rush University
;
Chicago
;
IL
;
USA
2
.
Department
of
Developmental
Disability
Neuropsychiatry
;
School
of
Psychiatry
;
University
of
New South Wales
;
Sydney
;
Australia
3. D茅partement de Neurologie
;
H么pitaux Universitaires de Strasbourg
;
H么pital de Hautepierre
;
Strasbourg
;
Cedex
;
67098
;
France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC)
;
INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg
;
Illkirch
;
67404
;
France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS)
;
Universit茅 de Strasbourg
;
Strasbourg
;
France
6.
Department
of
clinical Genetics
;
Kennedy Center
;
Rigshospitalet
;
Copenhagen University Hospital
;
Copenhagen
;
Denmark
7.
Department
of
Medical Biochemistry and Molecular Biology
;
University
of
Seville
;
Sevilla
;
Spain
8.
Department
of
Anatomy & Cell Biology
;
Rush University
;
Chicago
;
IL
;
USA
13. Centre for Healthy Brain Ageing
;
University
of
New South Wales
;
Sydney
;
Australia
9.
Department
of
Pediatrics & M.I.N.D. Institute
;
University
of
California at Davis Medical Center
;
Sacramento
;
CA
;
USA
10.
Department
of
Neurology
;
Columbia University
;
New York
;
NY
;
USA
11.
Department
s
of
Pediatrics and Biochemistry
;
Rush University
;
Chicago
;
IL
;
USA
1
2
.
Department
of
Neurology
;
University
of
Colorado at Denver
;
Denver
;
CO
;
USA
刊名:Journal
of
Neuro
developmental
Disorders
出版年:
2
015
2.
Emerging topics in FXTAS
作者:
Deborah A Hall (1)
Rachael C Birch (
2
)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joanne O鈥橩eefe (8)
Julian N Trollor (13) (
2
)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (1
2
)
1.
Department
of
Neurological Sciences
;
Rush University
;
Chicago
;
IL
;
USA
2
.
Department
of
Developmental
Disability
Neuropsychiatry
;
School
of
Psychiatry
;
University
of
New South Wales
;
Sydney
;
Australia
3. D茅partement de Neurologie
;
H么pitaux Universitaires de Strasbourg
;
H么pital de Hautepierre
;
67098
;
Strasbourg
;
Cedex
;
France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC)
;
INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg
;
67404
;
Illkirch
;
France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS)
;
Universit茅 de Strasbourg
;
Strasbourg
;
France
6.
Department
of
clinical Genetics
;
Kennedy Center
;
Rigshospitalet
;
Copenhagen University Hospital
;
Copenhagen
;
Denmark
7.
Department
of
Medical Biochemistry and Molecular Biology
;
University
of
Seville
;
Sevilla
;
Spain
8.
Department
of
Anatomy & Cell Biology
;
Rush University
;
Chicago
;
IL
;
USA
13. Centre for Healthy Brain Ageing
;
University
of
New South Wales
;
Sydney
;
Australia
9.
Department
of
Pediatrics & M.I.N.D. Institute
;
University
of
California at Davis Medical Center
;
Sacramento
;
CA
;
USA
10.
Department
of
Neurology
;
Columbia University
;
New York
;
NY
;
USA
11.
Department
s
of
Pediatrics and Biochemistry
;
Rush University
;
Chicago
;
IL
;
USA
1
2
.
Department
of
Neurology
;
University
of
Colorado at Denver
;
Denver
;
CO
;
USA
关键词:
FMR1
;
FXTAS
;
Premutation
;
Fragile X
;
Tremor
;
Ataxia
刊名:Journal
of
Neuro
developmental
Disorders
出版年:
2
014
3.
Duplication
of
the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series
作者:
Yuka Yasuda (1)
Ryota Hashimoto (1) (
2
)
Ryoko Fukai (3) (4)
Nobuhiko Okamoto (5)
Yoko Hiraki (6)
Hidenaga Yamamori (1) (7)
Michiko Fujimoto (1)
Kazutaka Ohi (1)
Masako Taniike (
2
)
Ikuko Mohri (
2
)
Mitsuko Nakashima (4)
Yoshinori Tsur
usa
ki (4)
Hirotomo Saitsu (4)
Naomichi Matsumoto (4)
Noriko Miyake (4)
Masatoshi Takeda (1)
1.
Department
of
Psychiatry
;
Osaka University Graduate School
of
Medicine
;
D3
;
2
-
2
;
Yamadaoka
;
Suita
;
Osaka
;
565-0871
;
Japan
2
. Molecular Research Center for Children鈥檚 Mental Development
;
United Graduate School
of
Child Development
;
Osaka University
;
D3
;
2
-
2
;
Yamadaoka
;
Suita
;
Osaka
;
565-0871
;
Japan
3.
Department
of
Human Genetics
;
Yokohama City University Graduate School
of
Medicine
;
3-9 Fukuura
;
Kanazawa-ku
;
Yokohama
;
2
36-0004
;
Japan
4.
Department
of
Neurology and Stroke Medicine
;
Yokohama City University Graduate School
of
Medicine
;
3-9 Fukuura
;
Kanazawa-ku
;
Yokohama
;
2
36-0004
;
Japan
5. Division
of
Medical Genetics
;
Osaka Medical Center and Research Institute for Maternal and Child Health
;
Izumi
;
594-1101
;
Japan
6. Hiroshima Municipal Center for Child Health and Development
;
Hiroshima
;
73
2
-005
2
;
Japan
7.
Department
of
Molecular
Neuropsychiatry
;
Osaka University Graduate School
of
Medicine
;
D3
;
2
-
2
;
Yamadaoka
;
Suita
;
Osaka
;
565-0871
;
Japan
关键词:
Autism spectrum disorder
;
Copy
;
number variants
;
Duplication
;
Nephronophthisis 1 gene
;
Intelligence
刊名:Annals
of
General Psychiatry
出版年:
2
014
1
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