Publications by authors named "Huseyin Per"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Huseyin Per

J Clin Invest· December 2025

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Polysomnographic and clinical features of childhood non-REM parasomnias: A sleep center experience.
Aslı Çıplaklıgil, Duygu Kurt Gök, Hüseyin Per, Sevda İsmailoğulları

Brain Dev· December 2025

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L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.
Beyza Karataş, Ayten Güleç, Ömer YiğitSezer, Hakan Gumus, Busra Aynekin, Hüseyin Per

Neurogenetics· December 2025

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Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome.
Seda Kanmaz, Sanem Yılmaz, Nihal Olgaç Dündar, Ayşe Aksoy, Mehmet Canpolat, Hüseyin Per, Elif Perihan Oncel

J Child Neurol· November 2025

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Iatrogenic Botulism Following Botulinum Toxin Injection in a Child With Cerebral Palsy: A Case Report.
Selcan Öztürk, Serap Tomruk Sütbeyaz, Hüseyin Per

J Child Neurol· November 2025

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Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.
Busra Aynekin, Bahadır M Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilguvar, Ayten Gulec, Huseyin Per

Mol Syndromol· October 2025

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Exploring Molecular and Phenotypic Characteristics of Arg234Gly and Asp312Asn Variants.
Hande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, Ilyas Kaya, Seda Erbilgin, Huseyin Per

Mol Syndromol· August 2025

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A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.
Aslihan Kiraz, Murat Erdogan, Burhan Balta, Hakan Gumus, Mehmet Burak Mutlu, Huseyin Per

Neurogenetics· May 2025

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Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the Gene.
Rumeysa Atasay, Leyla Nur Yilmaz, Ayten Gulec, Mehmet Canpolat, Huseyin Per

Mol Syndromol· May 2025

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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
Selcan Öztürk, Muhammet Ensar Doğan, Banu Kadıoğlu Yılmaz, Ayten Güleç, Pembe Soylu Üstkoyuncu, Hüseyin Per

J Pediatr Endocrinol Metab· March 2025

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Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Busra Aynekin, Sinan Akbaş, Ayten Gulec, Ummu Gulsum Ozgul Gumus, Abdullah Emre Guner, Huseyin Per

Neurogenetics· January 2025

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Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Emine Karatas, Ayten Gulec, Maide Korkmaz, Zehra Filiz Karaman, Aslihan Kiraz, Huseyin Per

Neurogenetics· December 2024

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Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
Zehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, Mustafa Burak Acar, Serife Ayaz-Guner, Alper Ozcan, Huseyin Per

J Clin Immunol· November 2024

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Molecular analysis of and gene deletions and relationships with clinical subtypes of spinal muscular atrophy.
Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir, Huseyin Per

J Neurogenet· September 2024

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Corrigendum to "A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort": [Turkish Journal of Medical Sciences 54 (1) 2024 86-98].
İzem Olcay Şahin, Emine Karataş, Mikail Demir, Büşra Tan, Hüseyin Per

Turk J Med Sci· September 2024

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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Hüseyin Per

Neurol Genet· August 2024

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DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.
Zehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, Mustafa Burak Acar, Serife Ayaz-Guner, Alper Ozcan, Huseyin Per

J Clin Immunol· August 2024

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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per

Eur J Hum Genet· May 2024

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A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.
İzem Olcay Şahin, Emine Karataş, Mikail Demir, Büşra Tan, Hüseyin Per

Turk J Med Sci· May 2024

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Neurological Complications in Children With Cancer: Experience From a Single Center in Türkiye.
Leyla Kara, Ekrem Unal, Huseyin Per, Sefer Kumandas, Mehmet Canpolat, Alper Ozcan

J Clin Pract Res· March 2024

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Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.
Meltem Çobanoğulları Direk, Şeyda Besen, İbrahim Öncel, Ceren Günbey, Orhan Özdoğan, Hüseyin Per

Mult Scler Relat Disord· January 2024

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Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.
Hilal Akalin, Izem Olcay Sahin, Seyma Aktas Paskal, Busra Tan, Ezgi Yalcinkaya, Huseyin Per

J Clin Lab Anal· January 2024

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Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.
Gamze Sarıkaya Uzan, Atay Vural, Deniz Yüksel, Erhan Aksoy, Ülkühan Öztoprak, Hüseyin Per

Pediatr Neurol· August 2023

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Evaluating the brainstem in children with breath-holding spells.
Gul Demet Kaya Ozcora, Sefer Kumandas, Ayse Sagiroglu, Niyazi Acer, Selim Doganay, Huseyin Per

North Clin Istanb· November 2022

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