Detalhe da pesquisa
1.
Increased rates of invasive bacterial disease in late 2022.
Eur J Pediatr
; 183(1): 323-334, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882822
2.
Transitional care models in adolescent kidney transplant recipients-a systematic review.
Nephrol Dial Transplant
; 38(1): 49-55, 2023 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35554567
3.
Everolimus precision therapy for the GATOR1-related epilepsies: A case series.
Eur J Neurol
; 30(10): 3341-3346, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422919
4.
Observational approaches to chimpanzee behavior in an African sanctuary: Implications for research, welfare, and capacity-building.
Am J Primatol
; 85(9): e23534, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37461356
5.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982612
6.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
7.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
8.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279850
9.
Response to treatment and outcomes of infantile spasms in Down syndrome.
Dev Med Child Neurol
; 64(6): 780-788, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35092693
10.
Neurological involvement in children with hemolytic uremic syndrome.
Eur J Pediatr
; 181(2): 501-512, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34378062
11.
Results of Testing Children for Severe Acute Respiratory Syndrome Coronavirus-2 Through a Community-based Testing Site.
J Pediatr
; 231: 157-161.e1, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33347958
12.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
13.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia
; 62(1): e13-e21, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280099
14.
Characteristics and Clinical Outcomes of Children and Adolescents Aged <18 Years Hospitalized with COVID-19 - Six Hospitals, United States, July-August 2021.
MMWR Morb Mortal Wkly Rep
; 70(5152): 1766-1772, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34968374
15.
Vaccine hesitancy and reported non-vaccination in an Irish pediatric outpatient population.
Eur J Pediatr
; 180(9): 2839-2847, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33774718
16.
Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.
Arch Dis Child Educ Pract Ed
; 106(2): 71-77, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928841
17.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
18.
Catalogue of inherited disorders found among the Irish Traveller population.
J Med Genet
; 55(4): 233-239, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358271
19.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
20.
Self-reported and observed feeding practices of Rhode Island Head Start teachers: Knowing what not to do.
Appetite
; 120: 310-317, 2018 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916196