Detalhe da pesquisa
1.
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Clin Immunol
; 264: 110244, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734037
2.
Protein composition correlates with the mechanical properties of spider ( Argiope trifasciata ) dragline silk.
Biomacromolecules
; 15(1): 20-9, 2014 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24313814
3.
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Mol Genet Genomic Med
; 12(3): e2349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263869
4.
Significant roles in RNA-binding for the amino-terminal domains of Drosophila Pumilio and Nanos.
bioRxiv
; 2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37961211
5.
Widespread regulation of the maternal transcriptome by Nanos in Drosophila.
bioRxiv
; 2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37693559
6.
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
Front Genet
; 14: 1298574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304066
7.
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Nat Genet
; 55(11): 1920-1928, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872450
8.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091509
9.
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667072
10.
Correlation between protein secondary structure and mechanical performance for the ultra-tough dragline silk of Darwin's bark spider.
J R Soc Interface
; 18(179): 20210320, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34129788
11.
Biomaterial evolution parallels behavioral innovation in the origin of orb-like spider webs.
Sci Rep
; 2: 833, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23150784
12.
The velvet spiders: an atlas of the Eresidae (Arachnida, Araneae).
Zookeys
; (195): 1-144, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22679386