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内部出版物
Wiley电子期刊(5)
SpringerLink电子期刊(74)
Elsevier电子期刊(93)
在“
SpringerLink电子期刊
”中,
命中:
74
条,耗时:小于0.01 秒
在所有数据库中总计命中:
172
条
1.
Examinations of
maternal
uniparental
disomy
and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
作者:
Jana Sachwitz
;
Getrud Strobl-Wildemann
;
György Fekete…
关键词:
Uniparental
disomy
;
Temple syndrome
;
Silver
;
Russell syndrome
;
upd(6)mat
;
upd(16)mat
;
upd(20)mat
;
Genomic imprinting
刊名:BMC Medical Genetics
出版年:2016
2.
Maternal
Uniparental
Iso
disomy
Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report
作者:
Jessica E. King (1)
Amy Dexter (2)
Inder Gadi (2)
Val Zvereff (2)
Meaghan Martin (2)
Miriam Bloom (1)
Adeline Vanderver (1)
Amy Pizzino (1)
Johanna L. Schmidt (1)
关键词:
Autosomal recessive
;
Uniparental
disomy
;
Iso
disomy
;
GM1 gangliosidosis
;
GLB1
刊名:Journal of Genetic Counseling
出版年:2014
3.
Genome-wide methylation analysis in Silver–Russell syndrome patients
作者:
A. R. Prickett
;
M. Ishida
;
S. B?hm
;
J. M. Frost
;
W. Puszyk
;
S. Abu-Amero…
刊名:Human Genetics
出版年:2015
4.
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a
maternal
methylation pattern
作者:
Ee-Shien Tan
;
Min-Hwee Yong
;
Eileen CP Lim
;
Zhi-hui Li…
关键词:
15q duplication syndrome
;
Array comparative genomic hybridization (aCGH)
;
Copy number gain
;
Autism
;
Developmental delay
;
Fluorescence in situ hybridization (FISH)
;
Marker chromosome
刊名:Molecular Cytogenetics
出版年:2014
5.
Clinical and genetic features of Prader-Willi syndrome in China
作者:
Wei Lu (1)
Yan Qi (2)
Bing Cui (2)
Xiu-Li Chen (1)
Bing-Bing Wu (3)
Chao Chen (4)
Yun Cao (4)
Wen-Hao Zhou (4)
Hong Xu (5)
Fei-Hong Luo (1)
关键词:
Deletion
;
Genotype
;
Phenotype
;
Prader
;
Willi syndrome
;
Uniparental
disomy
刊名:European Journal of Pediatrics
出版年:2014
6.
Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome
作者:
Marcio Leyser (1)
Patricia Sola Penna (1)
Alexandre Cardozo de Almeida (1)
Marcio Moacyr Vasconcelos (2)
Osvaldo J. M. Nascimento (2)
关键词:
Angelman syndrome
;
Neurodevelopment
;
Epilepsy
;
EEG
刊名:Neurological Sciences
出版年:2014
7.
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
作者:
Mardhiah Mohammad (1) (2)
Ranjit Nanra (3)
Deb Colville (1)
Paul Trevillian (3)
Yanyan Wang (1)
Helen Storey (4)
Frances Flinter (5)
Judy Savige (1)
关键词:X ;
linked Alport syndrome
;
Female
;
COL4A5 mutation
刊名:Pediatric Nephrology
出版年:2014
8.
Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder
作者:
Anastasia Dimitropoulos (1)
Alan Ho (1)
Benjamin Feldman (1)
关键词:
Prader
;
Willi syndrome
;
Social deficit
;
Social responsiveness
;
Social competence
;
Autism spectrum disorder
;
Maternal
uniparental
disomy
刊名:Journal of Autism and Developmental Disorders
出版年:2013
9.
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome
作者:
Berivan Baskin (1) (2)
Sanaa Choufani (3)
Yi-an Chen (3) (4)
Cheryl Shuman (3) (5) (6)
Nicole Parkinson (5) (7)
Emmanuelle Lemyre (8)
A. Micheil Innes (9)
Dimitri J. Stavropoulos (10) (2) (7)
Peter N. Ray (3) (6) (7)
Rosanna Weksberg (11) (3) (4) (5) (6)
刊名:Human Genetics
出版年:2014
10.
Good cognitive performances in a child with Prader-Willi syndrome
作者:
Rosa Nugnes (4)
Eugenio Zito (4)
Enza Mozzillo (4) (4)
Maria Erminia Camarca (4)
Maria Pia Riccio (4)
Gaetano Terrone (4)
Daniela Melis (4)
Carmela Bravaccio (4)
Adriana Franzese (4)
关键词:
Prader
;
Willi syndrome
;
Uniparental
disomy
(UPD)
;
Cognitive profile
;
Behavior
;
Intellectual quotient (IQ)
刊名:Italian Journal of Pediatrics
出版年:2013
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