Detalhe da pesquisa
1.
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Mol Psychiatry
; 26(5): 1589-1605, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060413
2.
Two novel pathogenic variants in MED13L: one familial and one isolated case.
J Intellect Disabil Res
; 65(12): 1049-1057, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713510
3.
Esophageal IgG4 levels correlate with histopathologic and transcriptomic features in eosinophilic esophagitis.
Allergy
; 73(9): 1892-1901, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790577
4.
Genomic copy number alterations in non-syndromic hearing loss.
Clin Genet
; 89(4): 473-477, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26456090
5.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
J Med Genet
; 49(2): 104-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180640
6.
High resolution DNA fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication.
Nat Genet
; 10(4): 477-9, 1995 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-7670498
7.
[Imaging strategies for knee injuries]. / Bildgebungsstrategie bei Kniegelenkverletzungen.
Radiologe
; 52(11): 980-6, 2012 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-23154845
8.
[Laser ablation. Do we still need it?]. / Laserablation. Brauchen wir sie noch?
Radiologe
; 52(1): 15-21, 2012 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-22249697
9.
Mutations in the APC tumour suppressor gene cause chromosomal instability.
Nat Cell Biol
; 3(4): 433-8, 2001 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11283620
10.
Gene expression in histologically normal epithelium from breast cancer patients and from cancer-free prophylactic mastectomy patients shares a similar profile.
Br J Cancer
; 102(8): 1284-93, 2010 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20197764
11.
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Cytogenet Genome Res
; 125(1): 1-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19617690
12.
Chromosome imbalances in syndromic hearing loss.
Clin Genet
; 76(5): 458-64, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19807740
13.
An STS-based map of the human genome.
Science
; 270(5244): 1945-54, 1995 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-8533086
14.
Genomic imbalances associated with mullerian aplasia.
J Med Genet
; 45(4): 228-32, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18039948
15.
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
J Med Genet
; 45(7): 447-50, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18456720
16.
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
J Med Genet
; 45(11): 710-20, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18628315
17.
Tamoxifen's protection against breast cancer recurrence is not reduced by concurrent use of the SSRI citalopram.
Br J Cancer
; 99(4): 616-21, 2008 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18665165
18.
Brief Report: Self-Injurious Behaviors in Preschool Children with Autism Spectrum Disorder Compared to Other Developmental Delays and Disorders.
J Autism Dev Disord
; 48(7): 2558-2566, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429009
19.
Detection of monoclonal microsatellite alterations in atypical breast hyperplasia.
J Clin Invest
; 98(5): 1095-100, 1996 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-8787670
20.
A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Eur J Med Genet
; 50(2): 149-54, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17223398