Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant.
Am J Med Genet A
; 194(4): e63489, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058249
3.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
4.
Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
Phys Occup Ther Pediatr
; 43(5): 630-643, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647261
5.
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Genet Med
; 22(10): 1598-1605, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461667
6.
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Am J Med Genet A
; 179(3): 410-416, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672094
7.
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Am J Med Genet A
; 179(4): 561-569, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30703284
8.
Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.
Am J Med Genet A
; 176(9): 1858-1864, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178919
9.
The association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.
Gait Posture
; 109: 271-276, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38368648
10.
Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit.
Clin Perinatol
; 49(1): 167-179, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35209999
11.
Rapid Exome and Genome Sequencing in the Intensive Care Unit.
Crit Care Clin
; 38(2): 173-184, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35369941
12.
Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.
J Child Health Care
; : 13674935221110081, 2022 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128922
13.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
; 11(1): 595, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001716
14.
McArdle disease: a "pediatric" disorder presenting in an adult with acute kidney injury.
CEN Case Rep
; 6(2): 156-160, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28660497
15.
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.
Mol Genet Metab Rep
; 13: 9-12, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748147
16.
Enteroviral Meningoencephalitis Complicated by Central Diabetes Insipidus in a Neonate: A Case Report and Review of the Literature.
J Pediatric Infect Dis Soc
; 4(2): 155-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26407416
17.
Treatment of inpatient hyperglycemia beginning in the emergency department: a randomized trial using insulins aspart and detemir compared with usual care.
J Hosp Med
; 6(5): 279-84, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21661100