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1.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol
; 255: 109757, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37689091
2.
Combination treatment of bortezomib and epirubicin increases the expression of TNFRSF10 A/B, and induces TRAIL-mediated cell death in colorectal cancer cells.
Biochem Biophys Res Commun
; 675: 33-40, 2023 10 01.
Article
in English
| MEDLINE | ID: mdl-37451215
3.
Investigation of sub-chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis.
Andrologia
; 54(9): e14489, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35672008
4.
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings.
Fetal Pediatr Pathol
; 41(1): 155-165, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-32281916
5.
Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757].
Clin Immunol
; 256: 109799, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37845128
6.
A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay.
Brain Dev
; 45(5): 300-305, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36759255
7.
Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
Mol Biol Rep
; 38(5): 3195-200, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-20165923
8.
IL-17A, MCP-1, CCR-2, and ABCA1 polymorphisms in children with non-alcoholic fatty liver disease.
J Pediatr (Rio J)
; 95(3): 350-357, 2019.
Article
in English
| MEDLINE | ID: mdl-29733805
9.
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.
Mol Cytogenet
; 11: 54, 2018.
Article
in English
| MEDLINE | ID: mdl-30258496
10.
ASD with the Bor Syndrome: A Case Report.
Psychopharmacol Bull
; 50(2): 45-50, 2020 05 19.
Article
in English
| MEDLINE | ID: mdl-32508366
11.
IL-17A, MCP-1, CCR-2, and ABCA1 polymorphisms in children with non-alcoholic fatty liver disease / Polimorfismos IL-17A, MCP-1, CCR-2 e ABCA1 em crianças com doença hepática gordurosa não alcoólica
J. pediatr. (Rio J.)
; 95(3): 350-357, May-June 2019. tab
Article
in English
| LILACS | ID: biblio-1012602
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