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内部出版物
Wiley电子期刊(2)
SpringerLink电子期刊(18)
Elsevier电子期刊(30)
在“
SpringerLink电子期刊
”中,
命中:
18
条,耗时:小于0.01 秒
在所有数据库中总计命中:
50
条
1.
Genomic findings in patients with clinical suspicion of 22q11.2
deletion
syndrome
作者:
Magdalena Koczkowska
;
Jolanta Wierzba
;
Robert Śmigiel…
关键词:
22q11.2
deletion
syndrome
;
Array comparative genomic hybridization
;
17q21.31 micro
deletion
syndrome
;
NF1 microduplication
syndrome
;
chromosome 6p25.3p25.2
deletion
;
NAALADL2
刊名:Journal of Applied Genetics
出版年:2017
2.
Left Ventricular Non-compaction: Is It Genetic?
作者:
Teck Wah Ting
;
Saumya Shekhar Jamuar
;
Maggie Siewyan Brett…
关键词:
1p36
Deletion
syndrome
;
Left ventricular non
;
compaction
;
Developmental delay
;
Review of genetic etiology
;
Diagnostic algorithm
刊名:Pediatric Cardiology
出版年:2015
3.
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of
1p36
deletion
syndrome
作者:
évelin Aline Zanardo (1) (2)
Flavia Balbo Piazzon (1)
Roberta Lelis Dutra (1) (2)
Alexandre Torchio Dias (1)
Marília Moreira Montenegro (1) (2)
Gil Monteiro Novo-Filho (1) (2)
Thaís Virgínia Moura Machado Costa (1)
Amom Mendes Nascimento (1) (2)
Chong Ae Kim (2)
Leslie Domenici Kulikowski (1) (2)
关键词:
Complex structural rearrangement
;
Chromoanagenesis
;
1p36
syndrome
;
Copy number variation
;
Cytogenomic techniques
刊名:Molecular Genetics and Genomics
出版年:2014
4.
Testicular sex cord-stromal tumor in a boy with 2q37
deletion
syndrome
作者:
Yasunari Sakai
;
Ryota Souzaki
;
Hidetaka Yamamoto
;
Yuki Matsushita…
关键词:
2q37
deletion
syndrome
;
Comparative genome hybridization (CGH)
;
Copy number variation (CNV)
;
And testicular sex cord
;
stromal tumor
刊名:BMC Medical Genomics
出版年:2014
5.
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with
1p36
deletion
syndrome
and a Prader-Willi-like phenotype
作者:
Stefano Stagi (1) (4)
Elisabetta Lapi (2)
Marilena Pantaleo (2)
Francesco Chiarelli (3)
Salvatore Seminara (1)
Maurizio de Martino (1)
关键词:
Monosomy
1p36
;
Deletion
1p36
;
Developmental delay
;
Mental retardation
;
Seizures
;
Obesity
;
Hyperinsulinism
;
Impaired glucose tolerance
;
Hyperphagia
;
Prader
;
Willi
;
like phenotype
刊名:BMC Medical Genetics
出版年:2014
6.
Chromothripsis with at least 12 breaks at
1p36
.33-p35.3 in a boy with multiple congenital anomalies
作者:
Bruno Faulin Gamba
;
Ant?nio Richieri-Costa
;
Silvia Costa…
关键词:
Complex chromosomal rearrangement
;
Multiple congenital anomalies
;
Array
;
CGH
;
Chromothripsis
刊名:Molecular Genetics and Genomics
出版年:2015
7.
Investigation of selected genomic
deletion
s 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:2014
8.
Chromosome 18q-
Syndrome
and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision
作者:
Elisa Brandigi (1)
Francesco Molinaro (1)
Anna Lavinia Bulotta (1)
Rossella Angotti (1)
Maria Pavone (1)
Mario Messina (1)
关键词:
Vesico
;
ureteral reflux
;
Deletion
of 18q
;
Duplication of 1p
刊名:Italian Journal of Pediatrics
出版年:2013
9.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange
syndrome
作者:
Cristina Gervasini (1)
Chiara Picinelli (2)
Jacopo Azzollini (1)
Daniela Rusconi (2) (6)
Maura Masciadri (2)
Anna Cereda (3)
Cinzia Marzocchi (4)
Giuseppe Zampino (5)
Angelo Selicorni (3)
Romano Tenconi (4)
Silvia Russo (2)
Lidia Larizza (1) (2)
Palma Finelli (2) (6) (7)
刊名:BMC Medical Genetics
出版年:2013
10.
Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence
作者:
Ebru Aypar (1)
Ahmet Sert (1)
Zeynel Gokmen (2)
Eyup Aslan (1)
Dursun Odabas (1)
关键词:
Left ventricular noncompaction
;
Noncompaction
;
Noncompaction of ventricular myocardium
;
Pierre
;
Robin sequence
刊名:Pediatric Cardiology
出版年:2013
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