Doç. Dr. Safiye Güneş Sağer

The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation

BMC pediatrics, 2026

DOI 10.1186/s12887-026-07905-0 PMID 42920114 Texte intégral en libre accèsSource : Europe PMC

ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype

Clinical Genetics, 2026

DOI 10.1111/cge.70140 PMID 41525715 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series

Neurogenetics, 2026

DOI 10.1007/s10048-026-00913-3 PMID 42230463 Texte intégral en libre accèsSource : OpenAlex

The Angelman Mimic: Navigating Diagnostic Uncertainty in a Genetically Diverse Landscape

Research Square, 2026

DOI 10.21203/rs.3.rs-10974080/v1 Texte intégral en libre accèsSource : OpenAlex

Additional file 2 of The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation

Figshare, 2026

DOI 10.6084/m9.figshare.34762223 Texte intégral en libre accèsSource : OpenAlex

Fatal Late-Onset Presentation of Ornithine Transcarbamylase (OTC) Deficiency: A Case Report Highlighting Diagnostic Challenges and Cerebral Complications

Indian Journal of Clinical Biochemistry, 2025

DOI 10.1007/s12291-025-01307-2 Source : OpenAlex

P462: Exploring genotypic diversity in Angelman-like syndromes: Clinical implications

Genetics in Medicine Open, 2025

DOI 10.1016/j.gimo.2025.103329 Texte intégral en libre accèsSource : OpenAlex

The Effect of Levetiracetam and Valproic Acid Treatment on Anger and Attention Deficit Hyperactivity Disorder Clinical Features in Children and Adolescents with Epilepsy: A Prospective Study

Paediatric drugs, 2024

DOI 10.1007/s40272-024-00652-8 PMID 39331340 6 citations (Europe PMC) Source : Europe PMC

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 citations (Europe PMC) Source : Europe PMC

A case of ocular flutter associated with sole anti-sulphatide antibody positivity: successful treatment with intravenous immunoglobulin in a pediatric patient

Acta neurologica Belgica, 2024

DOI 10.1007/s13760-024-02645-3 PMID 39342054 Source : Europe PMC

Coexistence of longitudinally extensive transverse myelitis and diffuse midline glioma in the brainstem in an adolescent boy with acute flaccid paralysis

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2024

DOI 10.1007/s00381-023-06163-0 PMID 37737897 Source : Europe PMC

The relationship between body mass index and cerebrospinal fluid pressure in children with pseudotumor cerebri

The Italian Journal of Pediatrics/Italian journal of pediatrics, 2024

DOI 10.1186/s13052-024-01722-w PMID 39154176 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy

Seizure, 2024

DOI 10.1016/j.seizure.2024.11.009 PMID 39612909 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation

Clinical Genetics, 2024

DOI 10.1111/cge.14674 PMID 39667727 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort

Neurogenetics, 2024

DOI 10.1007/s10048-024-00751-1 PMID 38388889 1 citation (OpenAlex) Source : OpenAlex

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

Molecular Syndromology, 2024

DOI 10.1159/000538900 PMID 39634239 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders

American Journal of Medical Genetics Part A, 2024

DOI 10.1002/ajmg.a.63855 PMID 39166479 1 citation (OpenAlex) Source : OpenAlex

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders

Molecular Syndromology, 2024

DOI 10.1159/000540599 PMID 40176839 Texte intégral en libre accèsSource : OpenAlex

Periventricular Leukomalacia: Comparison of Parenchymal Signal and Volume Changes on Brain MRI in Paediatric Cases with Healthy Peers

Genel Tıp Dergisi, 2024

DOI 10.54005/geneltip.1471245 Texte intégral en libre accèsSource : OpenAlex

Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort

Clinical Genetics, 2024

DOI 10.1111/cge.14669 PMID 39659179 Source : OpenAlex

Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder

Balkan journal of medical genetics : BJMG, 2023

DOI 10.2478/bjmg-2023-0013 PMID 38482266 2 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

Clinical Findings and Optical Coherence Tomography Measurements of Pediatric Patients with Papilledema and Pseudopapilledema

Turkish journal of ophthalmology, 2023

DOI 10.4274/tjo.galenos.2023.81504 PMID 37868142 7 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES)

Turkish journal of medical sciences, 2023

DOI 10.55730/1300-0144.5754 PMID 38813507 2 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

Calgary score and modified calgary score in the differential diagnosis between syncope and genetic generalized epilepsy in children

Scientific reports, 2023

DOI 10.1038/s41598-023-39338-5 PMID 37524730 Texte intégral en libre accèsSource : Europe PMC

Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease

International ophthalmology, 2023

DOI 10.1007/s10792-022-02452-w PMID 35953577 3 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing

International Ophthalmology, 2023

DOI 10.1007/s10792-023-02857-1 PMID 37592116 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications, 2023

DOI 10.1093/braincomms/fcad222 PMID 37794925 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome

Clinical and Translational Science, 2023

DOI 10.1111/cts.13679 PMID 37955180 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Evaluation Of The Mean Platelet Volume And Neutrophil/Lymphocyte Ratıo, As Inflammatory Markers In Chıldren Wıth Autisim Spektrum Disorders

Haydarpasa Numune Training and Research Hospital Medical Journal, 2023

DOI 10.14744/hnhj.2022.80217 Texte intégral en libre accèsSource : OpenAlex

Assessment of the changing trends in maternal knowledge about management of fever and antibiotic use in the last decade in Türkiye

The Turkish Journal of Pediatrics, 2023

DOI 10.24953/turkjped.2022.609 PMID 37114692 Texte intégral en libre accèsSource : OpenAlex

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies

Acta neurologica Belgica, 2022

DOI 10.1007/s13760-021-01649-7 PMID 33813722 7 citations (Europe PMC) Source : Europe PMC

Efficacy of intravenous levetiracetam versus phenytoin in convulsive status epilepticus and acute repetitive seizures in children

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2022

DOI 10.1007/s00381-022-05543-2 PMID 35501510 3 citations (Europe PMC) Source : Europe PMC

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes

Molecular Syndromology, 2022

DOI 10.1159/000524391 PMID 36588751 8 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep

Brain and Development, 2022

DOI 10.1016/j.braindev.2022.09.004 PMID 36192301 8 citations (OpenAlex) Source : OpenAlex

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype

Clinical Genetics, 2022

DOI 10.1111/cge.14166 PMID 35599435 4 citations (OpenAlex) Source : OpenAlex

Determination of the factors that cause valproic acid resistance in the pediatric juvenile myoclonic epilepsy cohort

Medicine Science | International Medical Journal, 2022

DOI 10.5455/medscience.2021.08.244 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Evaluation of clinical characteristics between febrile seizures and generalized epilepsy febrile seizure plus

Medicine Science | International Medical Journal, 2022

DOI 10.5455/medscience.2022.05.113 Texte intégral en libre accèsSource : OpenAlex

Evaluation of the signs and symptoms of pseudotumor cerebri syndrome in pediatric population

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2021

DOI 10.1007/s00381-021-05279-5 PMID 34263340 6 citations (Europe PMC) Source : Europe PMC

Active Giant Cell Vasculitis Diagnosis with 68Ga PSMA PET/CT Imaging

Molecular imaging and radionuclide therapy, 2021

DOI 10.4274/mirt.galenos.2019.90532 PMID 33586411 1 citation (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy

Disability and Rehabilitation, 2021

DOI 10.1080/09638288.2021.1970255 PMID 34473588 18 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene

Molecular Syndromology, 2021

DOI 10.1159/000516201 PMID 35221876 10 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Evaluation of optical coherence tomography findings in adolescents with genetic generalized epilepsy

European Journal of Ophthalmology, 2021

DOI 10.1177/11206721211049710 PMID 34657446 11 citations (OpenAlex) Source : OpenAlex

Acute flaccid myelitis outbreak through 2016-2018-multi-centre experience from Turkey

Kocaeli Üniversitesi - AVESİS, 2019

Source : OpenAlex

Measuring the knowledge levels of mothers about fever, fever reducers, disease associated with fever, antibiotic use and febril convulsion

Haydarpasa Numune Training and Research Hospital Medical Journal, 2019

DOI 10.14744/hnhj.2019.65487 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

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

Kocaeli Üniversitesi - AVESİS, 2016

Source : OpenAlex