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

2. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Issue 10 (13th August 2019)

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

4. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Issue 5 (14th April 2020)

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

6. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Issue 1 (December 2016)

7. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. (26th October 2020)

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

9. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. (4th August 2015)

10. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Issue 9 (14th July 2014)