Uzm. Dr. Büşra Kutlubay

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches

Frontiers in Neurology, 2026

DOI 10.3389/fneur.2026.1742186 PMID 41835067 Frei zugänglicher VolltextQuelle: OpenAlex

Identification of Cerebrotendinous Xanthomatosis in High-Risk Children Using a Suspicion Index–Based Screening Strategy

Research Square, 2026

DOI 10.21203/rs.3.rs-10809714/v1 Frei zugänglicher VolltextQuelle: OpenAlex

Fokal epilepsili çocuklarda monoterapi olarak levetirasetam ve karbamazepinin karşılaştırılması

Ümraniye Pediatri Dergisi - Journal of Umraniye Pediatrics, 2026

DOI 10.14744/upd.2026.88700 Frei zugänglicher VolltextQuelle: OpenAlex

Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort

Neurogenetics, 2025

DOI 10.1007/s10048-025-00873-0 PMID 41420732 Quelle: ORCID

Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1

The European Research Journal, 2025

DOI 10.18621/eurj.1553885 Frei zugänglicher VolltextQuelle: ORCID

Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants

Brain and Development, 2025

DOI 10.1016/j.braindev.2025.104418 PMID 40818193 1 Zitation (OpenAlex) Quelle: OpenAlex

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

Journal of Clinical Research in Pediatric Endocrinology, 2024

DOI 10.4274/jcrpe.galenos.2023.2023-7-1 PMID 38212959 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis

Molecular genetics and genomics : MGG, 2024

DOI 10.1007/s00438-024-02210-w PMID 39722056 5 Zitationen (Europe PMC) Quelle: Europe PMC

Evaluation of the frequency of restless legs syndrome in children diagnosed with allergic diseases

Journal of Asthma, 2024

DOI 10.1080/02770903.2024.2438109 PMID 39628098 Quelle: OpenAlex

The course of sleep habits in newly diagnosed epilepsy in children: A prospective study

Epilepsy & Behavior, 2023

DOI 10.1016/j.yebeh.2023.109150 PMID 36871321 3 Zitationen (Europe PMC) Quelle: ORCID

Evaluation of restless legs syndrome in children with allergic rhinitis

Journal of Contemporary Medicine, 2023

DOI 10.16899/jcm.1321009 2 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: ORCID

Chronic inflammatory demyelinating neuropathy after etanercept therapy in the course of juvenile idiopathic arthritis

The Turkish Journal of Pediatrics, 2023

DOI 10.24953/turkjped.2021.4573 PMID 36866999 3 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis

Çocuk Dergisi / Journal of Child, 2022

DOI 10.26650/jchild.2022.1112958 1 Zitation (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies

Acta neurologica Belgica, 2022

DOI 10.1007/s13760-021-01649-7 PMID 33813722 7 Zitationen (Europe PMC) Quelle: Europe PMC

Therapeutic Plasma Exchange for Treating Pediatric Neurological Diseases

Trends in Pediatrics, 2022

DOI 10.4274/tp.galenos.2022.83997 4 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: ORCID

Clinical and Radiological Findings in Children with Cerebral Sinovenous Thrombosis

Turkish Journal of Pediatric Disease, 2022

DOI 10.12956/tchd.852458 Frei zugänglicher VolltextQuelle: ORCID

Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis

Brain and Development, 2021

DOI 10.1016/j.braindev.2021.05.001 PMID 34120800 23 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Evaluation Of The Relationship Between Pineal Cyst And Childhood Headache With Mr Imaging

Sakarya Üniversitesi Kurumsal Açık Akademik Arşivi, 2021

Quelle: OpenAlex

Glial fibrillary acidic protein (GFAP)-antibody in children with focal seizures of undetermined cause

Acta Neurologica Belgica, 2020

DOI 10.1007/s13760-020-01361-y PMID 32333263 19 Zitationen (OpenAlex) Quelle: OpenAlex

A rare variant of Guillain-Barre syndrome: Miller Fischer syndrome, evaluation of five patients

European Journal of Paediatric Neurology, 2017

DOI 10.1016/j.ejpn.2017.04.968 Quelle: OpenAlex

Treatment of epilepsy of infancy with migrating focal seizures associated with a novel CDKL5 mutation with potassium bromide

European Journal of Paediatric Neurology, 2017

DOI 10.1016/j.ejpn.2017.04.808 1 Zitation (OpenAlex) Quelle: OpenAlex

Transient splenial lesion of corpus callosum: Clinical and radiological evaluation of five patients

European Journal of Paediatric Neurology, 2017

DOI 10.1016/j.ejpn.2017.04.1091 Quelle: OpenAlex

SINIFLANDIRILMAMIŞ OMUZ KALÇA KAVŞAK MİYOPATİSİ VE NONSPESİFİK CK YÜKSEKLİĞİ BULUNAN ÇOCUKLARDA GEÇ BAŞLANGIÇLI POMPE HASTALIĞI SIKLIĞI ÇOK MERKEZLİ ÇALIŞMA

Kocaeli Üniversitesi - AVESİS, 2016

Quelle: OpenAlex

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

Neuromuscular Disorders, 2016

DOI 10.1016/j.nmd.2016.09.001 PMID 27666774 21 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Transient Splenial Lesion of the Corpus Callosum Related to Migraine with Aura in a Pediatric Patient

Acta Medica (Hradec Kralove Czech Republic), 2016

DOI 10.14712/18059694.2016.91 PMID 27526308 6 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

PP04.13 – 2780: The association of Moya Moya disease with pseudocoarctation: A case report

European Journal of Paediatric Neurology, 2015

DOI 10.1016/s1090-3798(15)30146-x 1 Zitation (OpenAlex) Quelle: OpenAlex

PP15.9 – 2371: Pseudotumor cerebri: A single center experience in 24 patients

European Journal of Paediatric Neurology, 2015

DOI 10.1016/s1090-3798(15)30306-8 Quelle: OpenAlex

PP08.7 – 2364: Atypical Guillain Barré syndrome with preserved deep tendon reflexes: report of three cases

European Journal of Paediatric Neurology, 2015

DOI 10.1016/s1090-3798(15)30203-8 Quelle: OpenAlex

PP13.13 – 2289: Delayed diagnosis of neuro-Behçet's disease: Report of 3 cases

European Journal of Paediatric Neurology, 2015

DOI 10.1016/s1090-3798(15)30284-1 Quelle: OpenAlex

P104 – 2363: Transient splenial lesion of the corpus callosum related to migraine with aura in a pediatric patient

European Journal of Paediatric Neurology, 2015

DOI 10.1016/s1090-3798(15)30417-7 Quelle: OpenAlex

PO-0163 Effect Of Nutrition With Follow-up Formula From 6th Month Of Age On The Complete Blood Count And Iron Levels Of Infants (preliminary Trial)

2014

DOI 10.1136/archdischild-2014-307384.825 Frei zugänglicher VolltextQuelle: OpenAlex

On dört yaşında akut lenfoblastik lösemili hastada düzelmeyen taşikardi

Türk Pediatri Arşivi, 2013

DOI 10.4274/tpa.665 Frei zugänglicher VolltextQuelle: OpenAlex

253 Management of Hemangiomas: A Single Center Experience

Archives of Disease in Childhood, 2012

DOI 10.1136/archdischild-2012-302724.0253 1 Zitation (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

746 Glazmann Thrombasthenia: Single Center Experience

Archives of Disease in Childhood, 2012

DOI 10.1136/archdischild-2012-302724.0746 Frei zugänglicher VolltextQuelle: OpenAlex

Arg753Gln polymorphism of the human Toll-like receptor 2 gene from infection to disease in pediatric tuberculosis

Human Immunology, 2011

DOI 10.1016/j.humimm.2011.02.001 PMID 21320563 51 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex