Detalhe da pesquisa
1.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(9): 1692-1709, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375587
2.
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
Am J Med Genet A
; : e63722, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38785278
3.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(11): 2206, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739836
4.
Life course health and healthcare utilization among adults with spina bifida.
Dev Med Child Neurol
; 58(7): 714-20, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26526690
5.
Population pharmacokinetics of oral baclofen in pediatric patients with cerebral palsy.
J Pediatr
; 164(5): 1181-1188.e8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607242
6.
Self-management, satisfaction with family functioning, and the course of psychological symptoms in emerging adults with spina bifida.
J Pediatr Psychol
; 38(1): 50-62, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976508
7.
Addressing social determinants of health through customization: Quality improvement, telemedicine, and care coordination to serve immigrant families.
J Pediatr Rehabil Med
; 16(4): 665-674, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160372
8.
Spina Bifida Global Learning Collaborative: Educating the next generation of clinicians, researchers, and advocates.
J Pediatr Rehabil Med
; 16(4): 657-663, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38143399
9.
Weight Status of Children Participating in the National Spina Bifida Patient Registry.
Pediatrics
; 150(6)2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416007
10.
Interrelationships of sex, level of lesion, and transition outcomes among young adults with myelomeningocele.
Dev Med Child Neurol
; 53(7): 647-52, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21410695
11.
Youth with spina bifida and transitions: health and social participation in a nationally represented sample.
J Pediatr
; 157(4): 584-8, 588.e1, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20488456
12.
Preface to the special issue for the guidelines for the care of people with spina bifida.
J Pediatr Rehabil Med
; 13(4): 457-459, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32986628
13.
Scientific methodology of the development of the Guidelines for the Care of People with Spina Bifida: An initiative of the Spina Bifida Association.
Disabil Health J
; 13(2): 100816, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31248776
14.
Obesity across the lifespan among persons with spina bifida.
Disabil Rehabil
; 31(11): 914-20, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19037774
15.
Spina bifida transition to adult healthcare guidelines.
J Pediatr Rehabil Med
; 12(4): 423-429, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31744036
16.
Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.
Clin Case Rep
; 7(11): 2087-2091, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31788257
17.
Incidence, prevalence, and characteristics of fractures in children, adolescents, and adults with spina bifida.
J Spinal Cord Med
; 30 Suppl 1: S5-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17874679
18.
It Takes a Village: Building Community With Assistive Technology.
Pediatrics
; 150(2)2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35909149
19.
Research Needs for Effective Transition in Lifelong Care of Congenital Genitourinary Conditions: A Workshop Sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases.
Urology
; 103: 261-271, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28163084
20.
Genetic epidemiology of neural tube defects.
J Pediatr Rehabil Med
; 10(3-4): 189-194, 2017 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125517