Search details
1.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cerebellum
; 2024 Apr 15.
Article
in English
| MEDLINE | ID: mdl-38622473
2.
Effectiveness and Safety of Epilepsy Surgery for Pediatric Patients with Intractable Epilepsy: A Clinical Retrospective Study from a Single-Center Experience.
Pediatr Neurosurg
; 59(1): 1-13, 2024.
Article
in English
| MEDLINE | ID: mdl-37926092
3.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Neuropediatrics
; 54(4): 225-238, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36787800
4.
Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency.
Neuropediatrics
; 53(2): 140-142, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35098522
5.
Clinical and electrophysiological predictors of behavioral disorders in patients with benign childhood epilepsy with centrotemporal spikes.
Epilepsy Behav
; 121(Pt A): 108037, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34058495
6.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Article
in English
| MEDLINE | ID: mdl-28343629
7.
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Rheumatol Int
; 40(11): 1903-1910, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32691099
8.
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
Clin Genet
; 96(5): 456-460, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31353455
9.
Neonatal sepsis and simple minor neurological dysfunction.
Pediatr Int
; 59(5): 564-569, 2017 May.
Article
in English
| MEDLINE | ID: mdl-27935218
10.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
J Biol Chem
; 288(47): 33745-33759, 2013 Nov 22.
Article
in English
| MEDLINE | ID: mdl-24108130
11.
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
BMC Med Genet
; 15: 10, 2014 Jan 16.
Article
in English
| MEDLINE | ID: mdl-24433453
12.
Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review.
J Pediatr Genet
; 13(2): 116-122, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38721573
13.
Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5.
J Pediatr Genet
; 13(1): 50-56, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38567175
14.
Retinal and Choroidal Vascularity Evaluation in Pediatric Radiologically Isolated Syndrome and Multiple Sclerosis.
Pediatr Neurol
; 153: 34-43, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38320456
15.
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Pediatr Neurol
; 152: 189-195, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38301322
16.
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.
Mult Scler Relat Disord
; 81: 105149, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38096730
17.
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
Hum Mol Genet
; 20(10): 1886-92, 2011 May 15.
Article
in English
| MEDLINE | ID: mdl-21330303
18.
Fine motor skills in children with rolandic epilepsy.
Epilepsy Behav
; 29(2): 322-5, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24012511
19.
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
Turk J Pediatr
; 55(2): 198-202, 2013.
Article
in English
| MEDLINE | ID: mdl-24192681
20.
Probable association between mRNA COVID-19 vaccine and opsoclonus-myoclonus-ataxia syndrome.
J AAPOS
; 27(2): 110-112, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36736453