Detalhe da pesquisa
1.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34930816
2.
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Epilepsia
; 61(2): 249-258, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31957018
3.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Epilepsia
; 60(3): 406-418, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30682224
4.
Can the Remote Use of a Peak Flow Meter Predict Severity of Subglottic Stenosis and Surgical Timing?
Laryngoscope
; 133(3): 628-633, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35748567
5.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37471090
6.
Quality of Recovery After Rotator Cuff Repair With Interscalene Liposomal Bupivacaine Versus Interscalene Nerve Catheter.
Orthop J Sports Med
; 10(11): 23259671221134819, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36458106
7.
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
NPJ Genom Med
; 5: 29, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32655885
8.
Patient with treatment resistant peristomal and scalp dermatitis.
JAAD Case Rep
; 31: 13-15, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36478980
9.
Differential effects of single versus repeated minocycline administration-Lack of significant interaction with chronic alcohol history.
Pharmacol Biochem Behav
; 168: 33-42, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29572015
10.
Age-related differences in anxiety-like behavior and amygdalar CCL2 responsiveness to stress following alcohol withdrawal in male Wistar rats.
Psychopharmacology (Berl)
; 234(1): 79-88, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27665607
11.
Disseminated cutaneous Mycobacterium chelonae infection as a presenting sign of ectopic adrenocorticotropic hormone syndrome.
JAAD Case Rep
; 18: 79-81, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34869812