Detalhe da pesquisa
1.
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Am J Med Genet A
; 170A(1): 11-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26373900
2.
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Am J Med Genet A
; 164A(9): 2240-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942156
3.
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
Am J Med Genet A
; 164A(11): 2814-21, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25250515
4.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495017
5.
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Neurogenetics
; 13(1): 31-47, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22218741
6.
Novel antagonist antibody to TLR3 blocks poly(I:C)-induced inflammation in vivo and in vitro.
Cell Immunol
; 267(1): 9-16, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21092943
7.
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Eur J Med Genet
; 63(1): 103624, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690204
8.
A rapid and efficient method for generating anti-variable region monoclonal antibodies using type-1 interferons as immune modulators.
Hum Antibodies
; 15(3): 61-9, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17065737
9.
Discovering Molecules That Regulate Efferocytosis Using Primary Human Macrophages and High Content Imaging.
PLoS One
; 10(12): e0145078, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26674639
10.
IgG variable region and VH CDR3 diversity in unimmunized mice analyzed by massively parallel sequencing.
Mol Immunol
; 57(2): 274-83, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24211535
11.
Surrogate antibodies that specifically bind and neutralize CCL17 but not CCL22.
Monoclon Antib Immunodiagn Immunother
; 32(3): 162-71, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23750473
12.
Sherlock Holmes and the strange case of the missing attribution: a historical note on "The Grandfather Passage".
J Speech Lang Hear Res
; 55(1): 84-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22354714
13.
Generation and characterization of rat anti-mouse ST2L monoclonal antibodies.
Hybridoma (Larchmt)
; 30(2): 153-62, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21529288
14.
The use of an anti-CD40 agonist monoclonal antibody during immunizations enhances hybridoma generation.
Hybridoma (Larchmt)
; 27(1): 25-30, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18294073
15.
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
Am J Med Genet A
; 143A(12): 1348-53, 2007 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17506097