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Toplam kayıt 7, listelenen: 1-7
A first case of OFDVI with c.3545delA and c.7400+1G > A mutations for CPLANE1 gene
(Nature Publishing Group, 2019)
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Joubert Syndrome:New genes described! A new allelic phenotypes achieved!
(Nature Publishing Group, 2019)
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The impact of ERCC6 or ERCC8 genes in two turkish patients with clinical findings of cockayne syndrome
(Nature Publishing Group, 2018)
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Gene discovery by Array- Comparative Genomic Hybridization
(Nature Publishing Group, 2018)
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A family of HHH syndrome with a novel missense mutation in SLC25A15 gene
(Nature Publishing Group, 2018)
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