Detalhe da pesquisa
1.
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Genet Med
; 26(1): 100995, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37838930
2.
Measurement of erythrocyte membrane mannoses to assess splenic function.
Br J Haematol
; 198(1): 155-164, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35411940
3.
Hyposplenism and Gastrointestinal Diseases: Significance and Mechanisms.
Dig Dis
; 40(3): 290-298, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34034254
4.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Hum Mutat
; 42(5): 626-638, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33644936
5.
Label-free glycopeptide quantification for biomarker discovery in human sera.
J Proteome Res
; 13(11): 4821-32, 2014 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-24946017
6.
Safety and efficacy of apixaban for routine thromboprophylaxis in myeloma patients treated with thalidomide- and lenalidomide-containing regimens.
Br J Haematol
; 185(1): 142-144, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29785771
7.
Long-term follow up after third-party viral-specific cytotoxic lymphocytes for immunosuppression- and Epstein-Barr virus-associated lymphoproliferative disease.
Haematologica
; 104(8): e356-e359, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30792197
8.
Anticoagulation in venous thromboembolism for the general physician.
J R Coll Physicians Edinb
; 54(1): 74-83, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38548714
9.
Drug-induced secondary haemophagocytic lymphohistiocytosis in hairy cell leukaemia.
J R Coll Physicians Edinb
; 54(1): 29-33, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38160201
10.
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
JAMA Netw Open
; 6(7): e2326445, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37523181
11.
Sanjeevini: a freely accessible web-server for target directed lead molecule discovery.
BMC Bioinformatics
; 13 Suppl 17: S7, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23282245
12.
Skin cancer in essential thrombocythaemia and polycythaemia vera patients treated with hydroxycarbamide.
EJHaem
; 3(4): 1305-1309, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36467813
13.
Misleading results from saliva samples of patients post-BMT in exome analyses.
Blood
; 124(4): 660-1, 2014 Jul 24.
Artigo
Inglês
| MEDLINE | ID: mdl-25061175
14.
Pulmonary sarcoidosis: a clinical update
J R Coll Physicians Edinb
; 50(3): 322-329, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32936114
15.
Improving intravenous fluid prescribing.
J R Coll Physicians Edinb
; 50(2): 181-187, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32568296
16.
Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
J Mol Diagn
; 22(6): 823-840, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32344035
17.
Intrapulmonary Autoantibodies to HSP72 Are Associated with Improved Outcomes in IPF.
J Immunol Res
; 2019: 1845128, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31098385
18.
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Pancreas
; 45(9): 1347-52, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27171515
19.
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
PLoS One
; 11(8): e0156738, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27483465
20.
Authors' reply.
J R Coll Physicians Edinb
; 50(2): 343-350, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32936125