The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations von Oguz Akarsu, Emel, Dinçsoy Bir, Firdevs, Baykal, Can, Taşdemir, Volkan, Kara, Bülent, Bebek, Nerses, Gürses, Candan, Uyguner, Oya, Baykan, Betül

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A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene von Uctepe, Eyyup, Kandemir, Nefise, Bir, Firdevs Dinçsoy, Karhan, Asuman Nur, Tumer, Sait, Ondes, Emine Busra, Konuskan, Bahadır, Yesilyurt, Ahmet

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Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families von Bir, Firdevs Dinçsoy, Dinçkan, Nuriye, Güven, Yeliz, Baş, Firdevs, Altunoğlu, Umut, Kuvvetli, Senem S, Poyrazoğlu, Şükran, Toksoy, Güven, Kayserili, Hülya, Oya Uyguner, Z

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GENOTYPE PHENOTYPE CORRELATION IN LIPOID PROTEINOSIS: 15 cases from Turkey von Dinçsoy Bir, Firdevs, Uyguner, Zehra Oya, Karaman, Birsen, Baykal, Can, Büyükbabani, Nesimi, Tüysüz, Beyhan, Gedikbaşı, Asuman, Uyanık, Bülent, Toksoy, Güven, Kara, Bülent, Kayserili, Hülya

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Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale von Silan, Fatma, Djurovic, Jelena, Bir, Firdevs Dincsoy, Silan, Coskun, Özdemir, Özturk

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Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis von Silan, Fatma, Karakaya, Taner, Bir, Firdevs Dincsoy, Paksoy, Baris, Ozdemir, Ozturk

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Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations von Ozdemir, Ozturk, Karakaya, Taner, Bir, Firdevs Dincsoy, Yildiz, Onur, Silan, Fatma

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A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome von Bir, Firdevs Dincsoy, Özdemir, Özturk, Karakaya, Taner, Yildiz, Onur, Silan, Fatma

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A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardatio... von Dincsoy Bir, Firdevs, Silan, Fatma, Velickovic, Jelena, Berkay Akcan, Mehmet, Ozdemir, Ozturk

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A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardatio... von Dincsoy Bir, Firdevs, Silan, Fatma, Velickovic, Jelena, Berkay Akcan, Mehmet, Ozdemir, Ozturk

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