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You searched for: Author/Creator Akdemir, Zeynep Coban

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1. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. (June 2021)

2. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. (January 2021)

3. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI. (6th April 2015)

4. Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome). Issue 1 (29th November 2019)