Detalhe da pesquisa
1.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586840
2.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Am J Med Genet A
; 188(12): 3540-3545, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082874
3.
High HFE mutation incidence in idiopathic erythrocytosis.
Br J Haematol
; 185(4): 794-795, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407617
4.
Germline JAK2 L611S mutation in a child with thrombocytosis.
Haematologica
; 103(8): e372-e373, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567786
5.
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Front Cell Dev Biol
; 10: 1021785, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393831
6.
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Mol Genet Genomic Med
; 9(12): e1836, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716697
7.
Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
Clin Case Rep
; 8(5): 790-792, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32477518
8.
Impact of interferon on a triple positive polycythemia vera.
Leukemia
; 34(4): 1210-1212, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31728058