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LTβR deficiency causes lymph node aplasia and impaired B cell differentiation

Science Immunology, 2025By Ahmet Can TurkogluJuly 29, 2025Leave a comment

Bernhard Ransmayr, Sevgi Köstel Bal, Marini Thian, Michael Svaton, Cheryl van de Wetering et al.

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

Movement Disorders, 2025By Ahmet Can TurkogluJuly 29, 2025Leave a comment

Dilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, Tuğçe Gül, Ahmet Yeşilyurt et al.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial function

medRxiv, 2025By Ahmet Can TurkogluJuly 21, 2025Leave a comment

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia et al.

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations

European Journal of Endocrinology, 2025By Ahmet Can TurkogluMay 6, 2025Leave a comment

Didem Helvacioglu, Aylin Tugba Canbaz, Aysel Tekmenuray-Unal, Yasin Ada, Ozge Yapici et al.

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations

European Journal of Endocrinology, 2025By Ahmet Can TurkogluMay 1, 2025Leave a comment

Didem Helvacioglu , Aylin Tugba Canbaz , Aysel Tekmenuray-Unal , Yasin Ada , Ozge Yapici et al.

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review

Genes, 2025By Ahmet Can TurkogluApril 10, 2025Leave a comment

Maria Tzetis, Anastasios Mitrakos, Ioanna Papathanasiou, Vasiliki Koute, Konstantina Kosma et al.

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes

Pediatric Neurology, 2025By Ahmet Can TurkogluApril 1, 2025Leave a comment

Semra Gürsoy, Ceren Yılmaz Uzman, Kadri Murat Erdoğan, Pakize Karaoğlu, Tuba Sözen Türk et al

Phenotypic variability in cases with CACNA1A mutation

European Journal of Pediatrics, 2025By Ahmet Can TurkogluMarch 20, 2025Leave a comment

Sema Bozkaya-Yilmaz, Nihal Olgac-Dundar, Yasar Bekir Kutbay, Berk Ozyilmaz, Bulent Kara et al.

Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy

Seizure: European Journal of Epilepsy, 2025By Ahmet Can TurkogluMarch 1, 2025Leave a comment

Leman Tekin Orgun, Adnan Deniz, Ayfer Sakarya Güneş, Gökçe Cırdı,
Bülent Kara et al.

Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes

Journal of Assisted Reproduction and Genetics, 2025By Ahmet Can TurkogluFebruary 11, 2025Leave a comment

Shahrashoub Sharifi, Murat Dursun, Ayla Şahin, Serdar Turan, Ateş Kadıoğlu et al.

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