Detalhe da pesquisa
1.
Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.
Int J Neurosci
; : 1-5, 2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35757998
2.
Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.
Neurocase
; 27(4): 366-371, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34396902
3.
Behavioral problems of preschool children with new-onset epilepsy and one-year follow-up - A prospective study.
Epilepsy Behav
; 92: 171-175, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30660968
4.
Guillain-Barré syndrome in children: subtypes and outcome.
Childs Nerv Syst
; 34(11): 2291-2297, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948140
5.
Panayiotopoulos syndrome: a case series from Turkey.
Epilepsy Behav
; 36: 24-32, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24840752
6.
Pediatric syncope: is detailed medical history the key point for differential diagnosis?
Pediatr Emerg Care
; 30(5): 331-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24759488
7.
Cardiac rhabdomyomas associated with tuberous sclerosis complex in 11 children: presentation to outcome.
Pediatr Hematol Oncol
; 30(2): 71-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23151153
8.
What is the outcome of rheumatic carditis in children with Sydenham's chorea?
Turk J Pediatr
; 54(2): 159-67, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734303
9.
Assessment of bone density in children with cerebral palsy by areal bone mineral density measurement.
Turk J Pediatr
; 53(6): 638-44, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22389986
10.
Sleep: How is it affected in patients with DMD and their mothers?
Minerva Pediatr (Torino)
; 2021 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056890
11.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
J Allergy Clin Immunol
; 124(6): 1289-302.e4, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004785
12.
The treatment of cerebral salt wasting with fludrocortisone in a child with lissencephaly.
Turk Neurosurg
; 20(1): 100-2, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20066633
13.
Refractive errors and strabismus in children with tuberous sclerosis: a controlled study.
J Pediatr Ophthalmol Strabismus
; 46(6): 345-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19928739
14.
Refractive errors and strabismus in children with Ddown syndrome: a controlled study.
J Pediatr Ophthalmol Strabismus
; 46(2): 83-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19343969
15.
Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation.
Turk J Pediatr
; 61(5): 757-759, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32105008
16.
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
Turk J Pediatr
; 61(2): 261-266, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31951338
17.
Posttraumatic infarction in the basal ganglia after a minor head injury in a child: case report.
Turk Neurosurg
; 18(4): 415-9, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19107692
18.
Refractive errors in neurofibromatosis type 1 and type 2.
Br J Ophthalmol
; 91(6): 746-8, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17202204
19.
Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis.
Clin Appl Thromb Hemost
; 13(2): 154-60, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17456624
20.
Assessment of tumors in children with tuberous sclerosis: a single centre's experience.
Turk Pediatri Ars
; 52(1): 30-34, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28439198