Detalhe da pesquisa
1.
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
J Pediatr Genet
; 12(4): 339-341, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38162154
2.
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Genes (Basel)
; 12(6)2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34200361
3.
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.
Diagnostics (Basel)
; 11(5)2021 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922271
4.
In vitro and in vivo generation of heterophil extracellular traps after Salmonella exposure.
Vet Immunol Immunopathol
; 188: 1-11, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28615122
5.
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Inflamm Bowel Dis
; 23(12): 2109-2120, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28930861