Bildiri Bilgileri
1
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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Obstacles in Organ Donation: Primary Hyperoxaluria Type1, AGXT gene Mutations. International Paediatric Organ Donation and Transplantation
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Dikkat eksikliği hiperaktivite bozukluğu ile başvuran 48,XXYY olgusu
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Çocuklarda Epilepsi Bulgusunun Eşlik Ettiği Genetik Bozuklukların Değerlendirilmesi.