Detalhe da pesquisa
1.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
2.
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
J Clin Immunol
; 43(8): 2011-2021, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695435
3.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat
; 43(3): 305-315, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026043
4.
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Am J Med Genet A
; 173(6): 1593-1600, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28440577
5.
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
J Med Genet
; 53(3): 200-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378117
6.
Five-month-old male with chronic diarrhea.
Paediatr Child Health
; 25(8): 483-484, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354255
7.
The Effect of the Secret Agent Society Group Program on Parent-Teacher Agreement Regarding Children's Social Emotional Functioning.
Behav Sci (Basel)
; 13(4)2023 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102836
8.
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
Front Neurol
; 14: 1265115, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073635
9.
Peptic ulcer bleeding outcomes adversely affected by end-stage renal disease.
Gastrointest Endosc
; 71(1): 44-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19595311
10.
Clinical acuity of repeat pediatric mental health presentations to the emergency department.
J Can Acad Child Adolesc Psychiatry
; 20(3): 208-13, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21804850
11.
A Description of Emergency Care Received by Children and Youth with Mental Health Presentations for Alcohol and Other Drug use in two Alberta Emergency Departments.
J Can Acad Child Adolesc Psychiatry
; 19(4): 290-6, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21037920
12.
Alfentanil dosage when inserting the classic laryngeal mask airway.
Anesthesiology
; 105(4): 684-8, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17006065