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Your search keyword '"Fatih, Jawid M."' showing total 10 results

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10 results on '"Fatih, Jawid M."'

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1. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

2. Novel RETREG1 (FAM134B)founder allele is linked to HSAN2B and renal disease in a Turkish family

3. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

4. Risk of sudden cardiac death in EXOSC5‐related disease

5. A novel homozygousSLC13A5whole‐gene deletion generated byAlu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

6. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

7. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

8. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.

9. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

10. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

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