Detalhe da pesquisa
1.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Pediatr Nephrol
; 37(11): 2643-2656, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211795
2.
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Haematologica
; 106(5): 1423-1432, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299908
3.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat
; 41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562665
4.
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Haematologica
; 104(5): 1036-1045, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30467204
5.
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Haematologica
; 102(2): 282-294, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27663637
6.
Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease.
Therap Adv Gastroenterol
; 16: 17562848231193211, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667806
7.
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
JIMD Rep
; 47(1): 9-16, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240161