Detalhe da pesquisa
1.
Releasing the TLE3 break to put TCM cells on a fast track.
Nat Immunol
; 25(2): 191-193, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238607
2.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272031
3.
Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization.
Neuroimage
; 279: 120325, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37579999
4.
Machine learning on MRI radiomic features: identification of molecular subtype alteration in breast cancer after neoadjuvant therapy.
Eur Radiol
; 33(4): 2965-2974, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36418622
5.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet
; 59(12): 1151-1164, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764379
6.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
7.
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
PLoS Genet
; 14(8): e1007504, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157172
8.
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Ann Hum Genet
; 83(6): 477-482, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173343
9.
Altering the speed of a DNA packaging motor from bacteriophage T4.
Nucleic Acids Res
; 45(19): 11437-11448, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981683
10.
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
BMC Med Genet
; 19(1): 160, 2018 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30200890
11.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Am J Med Genet A
; 179(8): 1665-1671, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192531
12.
Selective Sparse Sampling of Water Droplets in Oil with Acoustic Tweezers.
ACS Sens
; 9(4): 2066-2074, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627252
13.
Applying image features of proximal paracancerous tissues in predicting prognosis of patients with hepatocellular carcinoma.
Comput Biol Med
; 173: 108365, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38537563
14.
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.
Invest Ophthalmol Vis Sci
; 65(5): 9, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700873
15.
Optimizing robotic thyroid surgery: lessons learned from an retrospective analysis of 104 cases.
Front Endocrinol (Lausanne)
; 15: 1337322, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38362277
16.
Accurate preoperative prediction of nodal metastasis in papillary thyroid microcarcinoma: Towards optimal management of patients.
Head Neck
; 46(5): 1009-1019, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441255
17.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Ophthalmol Retina
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219857
18.
Intraoperative AI-assisted early prediction of parathyroid and ischemia alert in endoscopic thyroid surgery.
Head Neck
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38348564
19.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA Ophthalmol
; 142(5): 463-471, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602673
20.
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.
medRxiv
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585957