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Publications by Doga Turkkahraman

A Large PROP1 Gene Deletion in a Turkish Pedigree

Case Reports in Endocrinology

English

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A Large Deletion in the CFTR Gene in CBAVD

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Novel In-Frame FLNB Deletion Causes Larsen Syndrome in a Three-Generation Pedigree

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Dominantly Inherited Distal Nemaline/Cap Myopathy Caused by a Large Deletion in the Nebulin Gene

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A Case of ALS-FTD in a Large FALS Pedigree With a K17I ANG Mutation

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Apparent Homozygosity of p.Phe508del inCFTRdue to a Large Gene Deletion of Exons 4–11

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Aggressive Periodontitis Associated With Kindler Syndrome in a Large Kindler Syndrome Pedigree

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Parent-Of-Origin Effects on Quantitative Phenotypes in a Large Hutterite Pedigree

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Glaucoma Phenotype in a Large Swiss Pedigree With the Myocilin Gly367Arg Mutation

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A Novel Missense Mutation in ANO5/TMEM16E Is Causative for Gnathodiaphyseal Dyplasia in a Large Italian Pedigree

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