Detalhe da pesquisa
1.
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.
Mol Genet Metab
; 141(1): 108117, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38134582
2.
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.
Neuropediatrics
; 55(3): 156-165, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365196
3.
Predictors of Clinically Important Neuroimaging Findings in Children Presenting Pediatric Emergency Department.
Pediatr Emerg Care
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587067
4.
Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.
J Proteome Res
; 22(9): 3081-3095, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585105
5.
New-Onset Ocular Myasthenia after Multisystem Inflammatory Syndrome in Children.
J Pediatr
; 245: 213-216, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231493
6.
Evaluation of changes in physician behavior after introduction of pediatric syncope approach protocol in the emergency department.
Am J Emerg Med
; 55: 57-63, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276546
7.
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Am J Med Genet A
; 185(6): 1888-1896, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749994
8.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595124
9.
Validation of the EULAR/ACR 2017 idiopathic inflammatory myopathy classification criteria in juvenile dermatomyositis patients.
Clin Exp Rheumatol
; 39(3): 688-694, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337999
10.
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.
Rheumatol Int
; 41(1): 77-85, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106894
11.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Hum Mol Genet
; 27(24): 4263-4272, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215711
12.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
13.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
14.
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Pediatr Diabetes
; 21(7): 1176-1182, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738013
15.
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Neuropediatrics
; 51(6): 445-449, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663882
16.
Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency.
Neuropediatrics
; 51(3): 206-210, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31752029
17.
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Neuropediatrics
; 50(1): 41-45, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30453357
18.
Risk factors for seizure recurrence in a pediatric observation unit.
Am J Emerg Med
; 37(12): 2151-2154, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30709624
19.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet
; 95(2): 218-26, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087613
20.
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
J Hum Genet
; 62(4): 497-501, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974811