Detalhe da pesquisa
1.
Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study.
Neuropediatrics
; 53(1): 15-19, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327696
2.
Crouzon Syndrome and Acanthosis Nigricans With Fibrous Dysplasia of the Maxilla: An Unreported Suggested Triad.
J Craniofac Surg
; 32(1): 310-312, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33156176
3.
Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years.
Neuropediatrics
; 51(6): 440-444, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32629522
4.
Some children with congenital cytomegalovirus may benefit from additional imaging in addition to ultrasound.
Acta Paediatr
; 112(8): 1764-1765, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37159533
5.
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Am J Hum Genet
; 93(3): 524-9, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23932106
6.
Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones.
Blood Cells Mol Dis
; 60: 65-72, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26051481
7.
Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1.
Eur J Pediatr
; 174(2): 199-203, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25027832
8.
Pattern of hearing loss following cochlear implantation.
Eur Arch Otorhinolaryngol
; 272(9): 2261-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25012703
9.
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.
Am J Med Genet A
; 164A(8): 1940-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788350
10.
Medical And Surgical Management Of Orbital Cellulitis In Children.
Folia Med (Plovdiv)
; 56(4): 253-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26444354
11.
Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.
Arthritis Rheumatol
; 76(3): 444-454, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37738164
12.
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
Am J Hum Genet
; 87(5): 694-700, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21035105
13.
Regression of mesenchymal hamartoma of the liver with sarcoma chemotherapy.
J Pediatr Hematol Oncol
; 35(1): e25-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935658
14.
Unilateral Choanal Atresia Presenting With Congenital Respiratory Distress and Recurrent Cyanotic Episodes.
Ear Nose Throat J
; 102(9): NP429-NP431, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047200
15.
Post-operative MRI detection of residual cholesteatoma in pediatric patients - The yield of serial scans over a long follow-up.
Int J Pediatr Otorhinolaryngol
; 158: 111172, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526314
16.
Focal Epilepsy in Individuals with Laron Syndrome.
Horm Res Paediatr
; 95(3): 286-290, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358968
17.
Congenital cholesteatoma: Clinical features and surgical outcomes.
Int J Pediatr Otorhinolaryngol
; 156: 111098, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35255443
18.
Invasive fungal infections in pediatric oncology.
Pediatr Blood Cancer
; 56(7): 1092-7, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21319281
19.
Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study.
Case Rep Ophthalmol
; 12(2): 396-401, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054491
20.
Familial hydrocephalus with normal cognition and distinctive radiological features.
Am J Med Genet A
; 152A(11): 2743-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979187