Detalhe da pesquisa
1.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38271184
2.
In-cell Catalysis by Tethered Organo-Osmium Complexes Generates Selectivity for Breast Cancer Cells.
Chembiochem
; : e202400374, 2024 May 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38785030
3.
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Mol Genet Metab
; 142(2): 108488, 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38735264
4.
High-Pressure Synthesis and Recovery of Single Crystals of the Metastable Manganese Carbide, MnCx.
Chemistry
; : e202401581, 2024 May 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38771299
5.
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.
J Med Genet
; 60(12): 1215-1217, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37536919
6.
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
J Med Genet
; 60(2): 112-118, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35396271
7.
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
J Med Genet
; 60(3): 265-273, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36763037
8.
Epidemiology and management of oral cavity squamous cell carcinoma in Ireland.
Am J Otolaryngol
; 45(3): 104235, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38417262
9.
[Standardized risk-based antibiotic prophylaxis and adhesive film dressing for the prevention of wound infection following cochlear implantation]. / Standardisierte risikobasierte Antibiotikaprophylaxe und adhäsiver Filmverband zur Prävention von Wundinfektion bei Cochleaimplantation.
HNO
; 72(6): 405-411, 2024 Jun.
Artigo
Alemão
| MEDLINE | ID: mdl-38280932
10.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37076566
11.
Development and evaluation of a novel educational program for providers on the use of polygenic risk scores.
Genet Med
; 25(8): 100876, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37149760
12.
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(10): 100870, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37490054
13.
StomaAI: an efficient and user-friendly tool for measurement of stomatal pores and density using deep computer vision.
New Phytol
; 238(2): 904-915, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36683442
14.
Nonpharmaceutical interventions reduce the incidence and mortality of COVID-19: A study based on the survey from the International COVID-19 Research Network (ICRN).
J Med Virol
; 95(2): e28354, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36447130
15.
Validity evidence for observational ERCP competency assessment tools: a systematic review.
Endoscopy
; 55(9): 847-856, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36822219
16.
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
J Inherit Metab Dis
; 46(1): 92-100, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36214423
17.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36651831
18.
Universal genetic testing for women with newly diagnosed breast cancer in the context of multidisciplinary team care.
Med J Aust
; 218(8): 368-373, 2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37005005
19.
Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.
Twin Res Hum Genet
; 26(1): 40-48, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36950972
20.
Inconsistent discharge diagnoses for young cardiac arrest episodes: insights from a statewide registry.
Intern Med J
; 53(10): 1776-1782, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36001398