Detalhe da pesquisa
1.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36572524
2.
Clear cell variant of atypical fibroxanthoma and pleomorphic dermal sarcoma: Molecular characterization and review of the literature.
J Cutan Pathol
; 49(12): 1031-1034, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35922373
3.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29464339
4.
MaConDa: a publicly accessible mass spectrometry contaminants database.
Bioinformatics
; 28(21): 2856-7, 2012 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22954629
5.
Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm.
Head Neck Pathol
; 17(2): 576-580, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36723852
6.
Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).
Endocrinol Diabetes Metab Case Rep
; 20182018.
Artigo
Inglês
| MEDLINE | ID: mdl-29472987