Hüseyin PER (ORCID: 0000-0001-9904-6479)
Erciyes Üniversitesi
H-index: 34
Asia-Turkey
Top articles of Hüseyin PER (ORCID: 0000-0001-9904-6479)
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
An Interesting Family: A Patient with Blended Phenotype with Sexual Development Disorder and Coenzyme Q10 Deficiency and His Sibling Diagnosed with Joubert. | Gazi Medical Journal | Rümeysa Atasay Leyla Nur Yılmaz Ayten Güleç Hüseyin Per Mehmet Canpolat | 2024/1/2 |
Rare Serious Etiologies in Patients Admitted to Pediatric Clinics with Acquired Torticollis | YILMAZ SEÇİLMİŞ AYTEN GÜLEÇ NİMETULLAH ALPER DURMUŞ ÜMMÜGÜLSÜM ÖZGÜL GÜMÜŞ SELCAN ÖZTÜRK | 2024/4/29 | |
The Case with the Novel NALCN Variant. | Gazi Medical Journal | Ayse Nur Canal Emine Karataş Mehmet Canpolat Hüseyin Per Yusuf Özkul | 2024/1/2 |
Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia: A Case Series of Seven Patients. | Gazi Medical Journal | Büşra Özgüç Çalışkan Mehmet Canpolat Hakan Gümüş Hüseyin Per Fatih Kardaş | 2024/1/2 |
L1 Syndrome-Associated Phenotypes and a Novel L1CAM Variant: A Clinical Report | Journal of Pediatric Neurology | Seyma Aktas Paskal Fatih Yavuz Hüseyin Per Ahmet Kucuk Munis Dundar | 2024/4/25 |
A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort | Turkish Journal of Medical Sciences | Emine KARATAŞ Mikail DEMİR Büşra TAN Hüseyin PER Yusuf ÖZKUL | 2024 |
Case Report: Patient with Merosin-Deficient Congenital Muscular Dystrophy with Occipital Lissencephaly. | Gazi Medical Journal | Mustafa Mert Aydın Munis Dündar Mehmet Canpolat Hüseyin Per Ayten Güleç | 2024/1/2 |
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth | European Journal of Human Genetics | Frederike L Harms Jessica Erin Rexach Stephanie Efthymiou Busra Aynekin Hüseyin Per | 2024/2/19 |
Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients | Journal of Clinical Laboratory Analysis | Hilal Akalin Izem Olcay Sahin Seyma Aktas Paskal Busra Tan Ezgi Yalcinkaya | 2024/1 |
Genetic and Phenotypic Analysis of Patients with Mucopolysaccharidosis type IIIB Co-morbid with Autism Spectrum Disorder. | Gazi Medical Journal | A Gülhan Ercan-Şençiçek Tanyeri Barak Devendra K Rai Hande Kaymakçalan İlyas Kaya | 2024/1/2 |
Childhood pseudotumor cerebri syndrome: demographics, clinical features and optical coherence tomography utilization as a new method for diagnosis, treatment efficiency and … | Burcu Daldaban Çiftçi Hakan Gümüş Duygu Gülmez Sevim Mehmet Canpolat Ümmügülsüm Özgül Gümüş | 2024/2/14 | |
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study | Multiple Sclerosis and Related Disorders | Meltem Çobanoğulları Direk Şeyda Besen İbrahim Öncel Ceren Günbey Orhan Özdoğan | 2024/1/1 |
Blended Phenotype in a Case with Brain Malformation, Neurodevelopmental Disorder and Epilepsy. | Gazi Medical Journal | Emine Karataş Aslıhan Kiraz Zehra Filiz Karaman Hüseyin Per Munis Dündar | 2024/1/2 |
The Assessment and Management of Childhood Masturbation: An Analysis of 90 Cases | Neuropediatrics | Ayten Güleç Selcan Öztürk Hamit Acer Mehmet Canpolat Hakan Gümüş | 2024/1/5 |
Hereditary Hyperekplexia: Three Patients from Kayseri, Middle Anatolia and Three Different Genetic Findings by Different Methodology. | Gazi Medical Journal | Maide Korkmaz Aslıhan Kiraz Hakan Gümüş Hüseyin Per Munis Dündar | 2024/1/2 |
Opsoklonus-Miyoklonus Ataksi Sendromu ve Nörolojik Paraneoplastik Sendromlar | Turkiye Klinikleri Pediatric Neurology-Special Topics | Ayten GÜLEÇ Hüseyin PER | 2023 |
Erratum: Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic … | Journal of Pediatric Neurology | Bahadir M Samur Gulhan A Ercan-Sencicek Hakan Gumus Gulsum Gumus Ali Baykan | 2023/10 |
Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis | Aslıhan Kiraz Hakan Gümüş Burhan Balta Murat Erdoğan Ahmet Sami Güven | 2023 | |
Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1 | Journal of Pediatric Neurology | Bahadir M Samur Gulhan A Ercan-Sencicek Hakan Gumus Gulsum Gumus Ali Baykan | 2023/10 |
Musküler Distrofilerde Genetik Yaklaşım | ÇAĞATAY Günay ULUÇ Yiş Hüseyin Per | 2023 |
