Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
3.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043637
4.
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Am J Hum Genet
; 108(11): 2186-2194, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626536
5.
Return to the Operating Room for Unplanned Pin Removal After Percutaneous Pinning of Supracondylar Humerus Fractures: A Retrospective Review.
J Pediatr Orthop
; 43(7): e508-e512, 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231544
6.
Elastomeric Porous Poly(glycerol sebacate) Methacrylate (PGSm) Microspheres as 3D Scaffolds for Chondrocyte Culture and Cartilage Tissue Engineering.
Int J Mol Sci
; 24(13)2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445620
7.
Decision Making and Cost in Healthcare: The Patient Perspective.
J Surg Orthop Adv
; 32(1): 23-27, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185073
8.
Trends in Management of Pediatric Distal Radius Buckle Fractures.
J Pediatr Orthop
; 42(7): 367-371, 2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35551146
9.
Patient-Reported Outcome Measurement Information System (PROMIS) Scores in Pediatric Idiopathic Toe Walkers.
J Pediatr Orthop
; 42(8): e878-e881, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35797178
10.
Maximization Personality, Disability and Symptoms of Psychosocial Disease in Hand Surgery Patients.
J Surg Orthop Adv
; 29(2): 106-111, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32584225
11.
Evidence to Action: The 10th International Conference on Typhoid and Other Invasive Salmonelloses.
Clin Infect Dis
; 68(Suppl 1): S1-S3, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30766998
12.
The Coalition Against Typhoid: Mobilizing a Community for a Global Fight.
Clin Infect Dis
; 68(Suppl 2): S161-S164, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30845319
13.
Absence of heterozygosity due to template switching during replicative rearrangements.
Am J Hum Genet
; 96(4): 555-64, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25799105
14.
Postincident Support for Healthcare Workers Experiencing Occupational Violence and Aggression.
J Nurs Scholarsh
; 50(4): 344-352, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29746723
15.
Patients Should Define Value in Health Care: A Conceptual Framework.
J Hand Surg Am
; 43(11): 1030-1034, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754755
16.
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet
; 94(4): 574-85, 2014 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24702954
17.
The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.
PLoS Genet
; 10(3): e1004195, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24603440
18.
Set-piece approach for medical teams managing emergencies in sport: introducing the FIFA Poster for Emergency Action Planning (PEAP).
Br J Sports Med
; 56(13): 715-717, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165085
19.
Emerging therapy for endometriosis.
Expert Opin Emerg Drugs
; 20(3): 449-61, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26050551
20.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Am J Hum Genet
; 98(3): 592, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28863274