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| A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy R Duan, NW Saadi, CM Grochowski, G Bhadila, A Faridoun, T Mitani, ... American Journal of Medical Genetics Part A 185 (7), 1972-1980, 2021 | 18 | 2021 |
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| Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease LA Robak, R Du, B Yuan, S Gu, I Alfradique-Dunham, V Kondapalli, ... Neurology: Genetics 6 (5), e498, 2020 | 14 | 2020 |
| Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant AK Saad, D Marafi, T Mitani, H Du, K Rafat, JM Fatih, SN Jhangiani, ... American Journal of Medical Genetics Part A 185 (4), 1288-1293, 2021 | 13 | 2021 |
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James LupskiBaylor College of MedicineVerified email at bcm.edu
