Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
3.
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Am J Med Genet A
; 158A(9): 2091-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821852
4.
Infectious Complications of DiGeorge Syndrome in the Setting of Malignancy.
Cureus
; 14(6): e26277, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35898360
5.
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.
Am J Med Genet A
; 155A(4): 885-91, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416596
6.
CB2 selective sulfamoyl benzamides: optimization of the amide functionality.
Bioorg Med Chem Lett
; 19(2): 309-13, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19091565
7.
Discovery of a series of aminopiperidines as novel iNOS inhibitors.
Bioorg Med Chem Lett
; 18(1): 336-43, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18024030
8.
Asymmetric synthesis of alpha-amino allyl, benzyl, and propargyl silanes by metalation and rearrangement.
Org Lett
; 5(11): 1859-61, 2003 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-12762671
9.
Design and Synthesis of Imidazopyrimidine Derivatives as Potent iNOS Dimerization Inhibitors.
Open Med Chem J
; 3: 8-13, 2009 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19966921