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内部出版物
Wiley电子期刊(6)
NATURE电子期刊(4)
ACS电子期刊(1)
SpringerLink电子期刊(52)
Elsevier电子期刊(115)
在“
SpringerLink电子期刊
”中,
命中:
52
条,耗时:小于0.01 秒
在所有数据库中总计命中:
178
条
1.
Modulation of mu attenuation to social stimuli in children and adults with
16p11
.
2
deletions and duplications
作者:
Caitlin M. Hudac
;
Anna Kresse
;
Benjamin Aaronson…
关键词:
16p11
.
2
;
Copy number variation (CNV)
;
Autism spectrum disorder (ASD)
;
Mu attenuation
;
Electroencephalogram (EEG)
;
Social perception
;
Molecular subtyping
刊名:Journal of Neurodevelopmental Disorders
出版年:
2
015
2.
Copy number variation and brain structure: lessons learned from chromosome
16p11
.
2
作者:
Jason L Stein (1)
1. Neurogenetics Program
;
Department of Neurology
;
Center for Autism Research and Treatment
;
Semel Institute
;
David Geffen School of Medicine
;
University of California
;
Los Angeles
;
Los Angeles
;
CA
;
90095
;
USA
刊名:Genome Medicine
出版年:
2
015
3.
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with
16p11
.
2
microdeletion syndrome
作者:
Axel Weber (1)
Angelika Khler (1)
Andreas Hahn (
2
)
Bernd Neubauer (
2
)
Ulrich Mler (1)
关键词:
Paroxysmal kinesigenic dyskinesia
;
PKD
;
PKD/IC
;
Infantile convulsions
;
16p11
.
2
deletion syndrome
;
THAPBS
;
THAP1
;
PRRT
2
刊名:neurogenetics
出版年:
2
013
4.
Coronin-1A: Immune Deficiency in Humans and Mice
作者:
Divya Punwani (1)
Barry Pelz (
2
)
Jason Yu (1)
Nicoleta C. Arva (3)
Kristian Schafernak (3)
Karly Kondratowicz (1)
Melanie Makhija (
2
)
Jennifer M. Puck (1)
1. Department of Pediatrics
;
University of California San Francisco and UCSF Benioff Children鈥檚 Hospital
;
Box 0519
;
513 Parnassus Avenue
;
HSE 301A
;
San Francisco
;
CA
;
94143-0519
;
USA
2
. Division of Allergy & Immunology
;
Department of Pediatrics
;
Ann & Robert H. Lurie Children鈥檚 Hospital of Chicago
;
Northwestern University
;
22
5 E Chicago Ave
;
Suite #60
;
Chicago
;
IL
;
60611
;
USA
3. Department of Pathology and Laboratory Medicine
;
Ann & Robert H. Lurie Children鈥檚 Hospital of Chicago
;
Northwestern University
;
Chicago
;
IL
;
60611
;
USA
关键词:
Chromosome
16p11
.
2
;
combined immunodeficiency (CID)
;
immune dysregulation
;
epstein
;
barr virus (EBV)
;
primary immunodeficiency
;
thymus
刊名:Journal of Clinical Immunology
出版年:
2
015
5.
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
作者:
Caroline Nava
;
Johanna Rupp
;
Jean-Paul Boissel
;
Cyril Mignot
2
30
关键词:
Cationic amino acid transporter
;
Autism spectrum disorders
;
Exome sequencing
;
Chromosome X
;
Oligogenism
刊名:Amino Acids
出版年:
2
015
6.
Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism
作者:
Jacob Ellegood
;
Jacqueline N. Crawley
关键词:
Autism
;
Magnetic resonance imaging (MRI)
;
Behaviour
;
Neuroanatomy
刊名:Neurotherapeutics
出版年:
2
015
7.
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome
作者:
Naomi Hino-Fukuyo
;
Atsuo Kikuchi
;
Natsuko Arai-Ichinoi
;
Tetsuya Niihori…
刊名:Human Genetics
出版年:
2
015
8.
A systematic heritability analysis of the human whole blood transcriptome
作者:
Tianxiao Huan
;
Chunyu Liu
;
Roby Joehanes
;
Xiaoling Zhang
;
Brian H. Chen…
刊名:Human Genetics
出版年:
2
015
9.
Complex small supernumerary marker chromosome with a 15q/
16p
duplication: clinical implications
作者:
Denise M Christofolini
;
Flavia B Piazzon
;
Carolina Evo…
关键词:
Complex sSMC
;
15q duplication
;
16p
duplication
;
Familial inheritance
刊名:Molecular Cytogenetics
出版年:
2
014
10.
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes
作者:
Carla S D’Angelo
;
Monica C Varela
;
Cláudia IE de Castro…
关键词:
Obesity
;
Developmental delay
;
Copy number variants (CNVs)
;
Multiplex ligation
;
dependent probe amplification (MLPA)
;
Chromosomal microarray analysis (CMA)
刊名:Molecular Cytogenetics
出版年:
2
014
1
2
3
4
5
6
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