Detalhe da pesquisa
1.
Do infants with isolated congenital sixth nerve palsy require comprehensive work-up? A retrospective cohort and review of the literature.
Graefes Arch Clin Exp Ophthalmol
; 262(3): 967-973, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597111
2.
Long COVID-19 Liver Manifestation in Children.
J Pediatr Gastroenterol Nutr
; 75(3): 244-251, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687535
3.
Mucormycosis in children with haematological malignancies is a salvageable disease: a report from the Israeli Study Group of Childhood Leukemia.
Br J Haematol
; 189(2): 339-350, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31885080
4.
The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
Clin Genet
; 97(2): 296-304, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730237
5.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain
; 142(11): 3351-3359, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504246
6.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Mol Cell
; 48(4): 641-6, 2012 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063529
7.
[UNILATERAL MULTI-CYSTIC LUNG DISEASE IN A PRETERM INFANT].
Harefuah
; 159(10): 735-738, 2020 Oct.
Artigo
em Hebraico
| MEDLINE | ID: mdl-33103392
8.
Improved Outcome in Local Ewing Sarcoma With an Intensified Pilot Treatment Protocol SCMCIE 94.
J Pediatr Hematol Oncol
; 41(2): 105-111, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30570510
9.
Acinic Cell Carcinoma of the Parotid Gland in Children and Adolescents.
J Pediatr Hematol Oncol
; 40(2): 99-103, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240035
10.
Cardiac MRI: A Useful Tool for Differentiating Cardiac Thrombi from Tumors.
Isr Med Assoc J
; 20(8): 472-475, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084570
11.
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Am J Med Genet A
; 173(11): 3109-3113, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884889
12.
Calcineurin inhibitor-free strategies for prophylaxis and treatment of GVHD in children with posterior reversible encephalopathy syndrome after stem cell transplantation.
Pediatr Blood Cancer
; 64(11)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28417553
13.
Perianal Pediatric Crohn Disease Is Associated With a Distinct Phenotype and Greater Inflammatory Burden.
J Pediatr Gastroenterol Nutr
; 65(3): 293-298, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28362690
14.
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
Neurogenetics
; 17(4): 251-257, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27631729
15.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Hum Genet
; 134(6): 577-87, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25792360
16.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 998-1010, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23200864
17.
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
18.
Characteristics and management of arachnoid cyst in the pediatric headache clinic setting.
Headache
; 54(10): 1583-90, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25320024
19.
Negative appendectomy rate in the pediatric population: can we reach near-zero rates? An observational study.
ANZ J Surg
; 94(1-2): 204-207, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38082452
20.
Neurologic complications of thiamine (B1) deficiency following bariatric surgery in adolescents.
Eur J Paediatr Neurol
; 50: 74-80, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705013