Detalhe da pesquisa
1.
Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.
Breast Cancer Res Treat
; 170(3): 517-524, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29611029
2.
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
J Clin Invest
; 132(18)2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900868
3.
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
J Clin Res Pediatr Endocrinol
; 13(4): 461-467, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045800
4.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med
; 27(7): 1197-1204, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059824