Detalhe da pesquisa
1.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064749
2.
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Am J Med Genet A
; 179(7): 1330-1337, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041856
3.
Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant.
Hemoglobin
; 40(5): 345-348, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624082