Detalhe da pesquisa
1.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 61(6): 578-585, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290825
2.
Characterization of central manifestations in patients with Niemann-Pick disease type C.
Genet Med
; 26(3): 101053, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131307
3.
Perceptual and Acoustic Analysis of Speech in Spinocerebellar ataxia Type 1.
Cerebellum
; 23(1): 112-120, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633828
4.
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia.
Cerebellum
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642239
5.
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC).
Cerebellum
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448793
6.
Surfactant Therapy in Congenital Diaphragmatic Hernia and Fetoscopic Endoluminal Tracheal Occlusion.
J Surg Res
; 296: 239-248, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38295711
7.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977818
8.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
J Med Genet
; 60(6): 597-607, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36328423
9.
Utility of Hospital Failure to Rescue for Analyzing Variation in Pediatric Postoperative Mortality.
Pediatr Crit Care Med
; 25(2): e64-e72, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695135
10.
Development, feasibility testing, and preliminary evaluation of the Communication with an Artificial airway Tool (CAT): Results of the Crit-CAT pilot study.
Aust Crit Care
; 37(1): 127-137, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880059
11.
Hospital Variation in Mortality After Inpatient Pediatric Surgery.
Ann Surg
; 278(3): e598-e604, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259769
12.
Variation in Complications and Mortality According to Infant Diagnosis.
Ann Surg
; 278(1): e165-e172, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943204
13.
Quantitative Speech Assessment in Ataxia-Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers.
Cerebellum
; 2023 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897626
14.
An Update on the Measurement of Motor Cerebellar Dysfunction in Multiple Sclerosis.
Cerebellum
; 22(4): 761-775, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761144
15.
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Cerebellum
; 2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015365
16.
Risk Stratification by Percent Liver Herniation in Congenital Diaphragmatic Hernia.
J Surg Res
; 282: 168-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306587
17.
Outcome of Extracorporeal Cardiopulmonary Resuscitation in Pediatric Patients Without Congenital Cardiac Disease: Extracorporeal Life Support Organization Registry Study.
Pediatr Crit Care Med
; 24(11): 927-936, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37477526
18.
Child traumatic physical abuse rates and comparisons during the COVID-19 pandemic: Retrospective paediatric single institution review in Texas.
J Paediatr Child Health
; 59(10): 1129-1134, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455617
19.
A review of ultrasonic vocalizations in mice and how they relate to human speech.
J Acoust Soc Am
; 154(2): 650-660, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540096
20.
Plug-and-play microphones for recording speech and voice with smart devices.
Folia Phoniatr Logop
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37972580