Detalhe da pesquisa
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
2.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
3.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
4.
Where do we intervene to optimize sports systems? Leverage Points the way.
J Sports Sci
; : 1-8, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767324
5.
Applying a systems thinking lens to anti-doping: A systematic review identifying the contributory factors to doping in sport.
J Sports Sci
; : 1-15, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284139
6.
Patterns of co-occurring birth defects in children with anotia and microtia.
Am J Med Genet A
; 191(3): 805-812, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541232
7.
Use of neuromuscular blockade for neck dissection and association with iatrogenic nerve injury.
BMC Anesthesiol
; 23(1): 254, 2023 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507689
8.
Neoadjuvant Immune Checkpoint Inhibition in Metastatic Conjunctival Melanoma.
Ophthalmic Plast Reconstr Surg
; 39(5): e152-e155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207285
9.
Using systems thinking-based risk assessment methods to assess hazardous manual tasks: a comparison of Net-HARMS, EAST-BL, FRAM and STPA.
Ergonomics
; 66(5): 609-626, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866642
10.
Birth defect co-occurrence patterns in the Texas Birth Defects Registry.
Pediatr Res
; 91(5): 1278-1285, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193968
11.
Patient Perceptions of Wearable and Smartphone Technologies for Remote Outcome Monitoring in Patients Who Have Hip Osteoarthritis or Arthroplasties.
J Arthroplasty
; 37(7S): S488-S492.e2, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277311
12.
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
Cleft Palate Craniofac J
; 59(4): 417-426, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33906455
13.
Incident reporting in the outdoors: a systems-based analysis of injury, illness, and psychosocial incidents in led outdoor activities in Australia.
Ergonomics
; 65(10): 1421-1433, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147484
14.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
15.
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
Am J Med Genet A
; 185(6): 1787-1793, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749998
16.
Applying a systems thinking lens to injury causation in the outdoors: Evidence collected during 3 years of the Understanding and Preventing Led Outdoor Accidents Data System.
Inj Prev
; 27(1): 48-54, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915271
17.
Sex associations and computed tomography coronary angiography-guided management in patients with stable chest pain.
Eur Heart J
; 41(13): 1337-1345, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883330
18.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
19.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
20.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Mol Genet Metab
; 130(1): 49-57, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165008