İndekslere Göre Yayın Sayıları
1 indeks
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SCI-E
Makale Bilgileri
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GRIN2A-associated epilepsy and neurological disorder: a single center experience
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MED13L-related intellectual disability: A Single Center Case Series
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Clinical and genetic spectrum of NEXMIF pathogenic variants: a single center experience
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Copy Number Variants in Pediatric Epilepsy Patients
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Case Report: A Novel PPT1:c.677T>G Variant in an Adult Form of Neuronal Ceroid Lipofuscinosis-1
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Case Report: A Novel PPT1:c.677T>G Variant in an Adult Form of Neuronal Ceroid Lipofuscinosis-1
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Case Report: A Novel PPT1:c.677T>G Variant in an Adult Form of Neuronal Ceroid Lipofuscinosis-1
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Case Report: A Novel PPT1:c.677T>G Variant in an Adult Form of Neuronal Ceroid Lipofuscinosis-1
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Case Report: A Novel PPT1:c.677T>G Variant in an Adult Form of Neuronal Ceroid Lipofuscinosis-1
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D- Bifonksiyonel protein eksikliği tanısı alan nadir bir peroksizomal hastalık olgusu
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CNOT1 gen mutasyonu: Vissers Bodmer Sendromu olan nadir bir olgu