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You searched for: Author/Creator Fatih, Jawid M.

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1. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Issue 3 (4th January 2023)

2. A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy. Issue 7 (2nd April 2021)

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. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

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

7. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Issue 4 (5th February 2021)

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

9. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Issue 3 (23rd November 2021)

10. Risk of sudden cardiac death in EXOSC5‐related disease. Issue 8 (4th June 2021)