Detalhe da pesquisa
1.
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
Clin Genet
; 105(2): 202-208, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37830462
2.
Mycoplasma pneumonia and atypical acute hemorrhagic edema of infancy.
Am J Emerg Med
; 41: 266.e3-266.e5, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919806
3.
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Am J Gastroenterol
; 111(2): 275-84, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729549
4.
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient.
Thromb Haemost
; 95(5): 893-5, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16676083