Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
2.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
3.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
J Med Genet
; 60(5): 505-510, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411030
4.
Medical students' perception of their 'distance travelled' in medical school applications.
Med Educ
; 58(2): 204-215, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485787
5.
"The Story I Will Never Forget": Critical Incident Narratives in Surgical Residency.
Ann Surg
; 277(3): e496-e502, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534986
6.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
7.
The Demands of Surgery Residency: More Than Just Duty Hours?
J Surg Res
; 290: 293-303, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327639
8.
Hardship and Humanity: A Closer Qualitative Look at Surgical Training and Its Effects on Trainees From the Perspectives of Loved Ones.
Ann Surg
; 275(4): 673-678, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596074
9.
Not Just Bystanders: A Qualitative Study on the Vicarious Effects of Surgical Training on the Wellness of Support Persons for Trainees.
Ann Surg
; 274(3): e295-e300, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856389
10.
Comparing cognitive assessment service provision between Aboriginal and Torres Strait Islanders and non-Indigenous Australians at a metropolitan health service.
Health Promot J Austr
; 32(3): 541-547, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686249
11.
Predictors of Respiratory Improvement 1 Week after Ligation of Patent Ductus Arteriosus in Preterm Infants.
J Pediatr
; 205: 49-54.e2, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30348438
12.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
13.
Investigating the Experiences of Childhood Cancer Patients and Parents Participating in Optional Nontherapeutic Clinical Research Studies in the UK.
Pediatr Blood Cancer
; 63(7): 1193-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928983
14.
Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.
J Ultrasound Med
; 35(9): 2057-65, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492391
15.
Comparison of time utilization in an academic inpatient versus an outpatient vascular laboratory.
J Clin Ultrasound
; 44(9): 540-544, 2016 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27351720
16.
Barriers to shared decisions in the most serious of cancers: a qualitative study of patients with pancreatic cancer treated in the UK.
Health Expect
; 18(6): 3302-12, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25496598
17.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Brain
; 136(Pt 10): 3106-18, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030952
18.
Engaging men with penile cancer in qualitative research: reflections from an interview-based study.
Nurse Res
; 21(3): 13-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24460560
19.
Faculty perception of resident promotion and prevention associated behaviors in the operating room to facilitate intra-operative learning.
Am J Surg
; 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182458
20.
Faculty Entrustment and Resident Entrustability.
JAMA Surg
; 159(3): 277-285, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198146