11 results on '"Du, Haowei"'
Search Results
2. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
3. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
4. Novel RETREG1 (FAM134B)founder allele is linked to HSAN2B and renal disease in a Turkish family
5. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
6. Expanding the phenotypic and allelic spectrum ofSMG8: Clinical observations reveal overlap withSMG9 ‐associated disease trait
7. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
8. Risk of sudden cardiac death in EXOSC5‐related disease
9. A novel homozygousSLC13A5whole‐gene deletion generated byAlu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
10. Congenital diaphragmatic hernia as a prominent feature of aSPECC1L ‐relatedsyndrome
11. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
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