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You searched for: Author/Creator Pehlivan, Davut

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1. Phenotypic expansion illuminates multilocus pathogenic variation. (December 2018)

2. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Issue 8 (11th July 2019)

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

5. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Issue 4 (8th February 2021)

6. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020)

7. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Issue 10 (15th September 2021)

9. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Issue 7 (24th March 2022)