Detalhe da pesquisa
1.
Identifying general reaction conditions by bandit optimization.
Nature
; 626(8001): 1025-1033, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418912
2.
Autophagy-linked plasma and lysosomal membrane protein PLAC8 is a key host factor for SARS-CoV-2 entry into human cells.
EMBO J
; 41(21): e110727, 2022 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124427
3.
Mobile interspersed repeats are major structural variants in the human genome.
Cell
; 141(7): 1171-82, 2010 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602999
4.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
PLoS Genet
; 18(12): e1010504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480544
5.
Comparative genomics of mortal and immortal cnidarians unveils novel keys behind rejuvenation.
Proc Natl Acad Sci U S A
; 119(36): e2118763119, 2022 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36037356
6.
Central Visual Field Testing in Early Glaucoma: A Report by the American Academy of Ophthalmology.
Ophthalmology
; 131(2): 240-248, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069944
7.
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Am J Med Genet A
; 194(4): e63501, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38082334
8.
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
Clin Auton Res
; 34(1): 191-201, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38064009
9.
Deep learning-based analysis of basins of attraction.
Chaos
; 34(3)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38437871
10.
Transscleral vs endoscopic cyclophotocoagulation: safety and efficacy when combined with phacoemulsification.
BMC Ophthalmol
; 23(1): 129, 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997879
11.
Efficacy and safety of topical 5-fluorouracil in conjunctival intraepithelial neoplasia refractory to interferon alpha-2b.
J Oncol Pharm Pract
; 29(4): 975-979, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131486
12.
Clinical outcomes of long-term corneas preserved frozen in Eusol-C used in emergency tectonic grafts.
Cell Tissue Bank
; 24(2): 351-356, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088523
13.
The impact of GeneMatcher on international data sharing and collaboration.
Hum Mutat
; 43(6): 668-673, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170833
14.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191117
15.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230722
16.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med
; 24(4): 784-797, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148959
17.
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
J Inherit Metab Dis
; 45(4): 710-718, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605046
18.
Outcomes of a combination of augmented MicroPulse and limited Continuous Wave Cyclophotocoagulation in patients with refractory glaucoma.
Graefes Arch Clin Exp Ophthalmol
; 260(5): 1583-1592, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694455
19.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Hum Genet
; 140(9): 1299-1312, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185153
20.
Victor McKusick and his short course.
Am J Med Genet A
; 185(11): 3242-3252, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402580