Detalhe da pesquisa
1.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Am J Med Genet A
; 185(10): 3129-3135, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34159711
2.
Understanding genetic variants of uncertain significance.
Paediatr Child Health
; 27(1): 10-11, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35273666
3.
A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.
Mol Genet Genomic Med
; 9(11): e1821, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34623774
4.
Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma.
Nat Med
; 26(5): 720-731, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32341580
5.
Author Correction: Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma.
Nat Med
; 27(6): 1117-1120, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34045740