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You searched for: Author/Creator Du, Haowei

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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. Back Cover, Volume 43, Issue 7. Issue 7 (8th June 2022)

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

5. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. (June 2021)

6. 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)

7. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome. Issue 12 (21st September 2020)

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

9. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait. Issue 2 (10th November 2021)

10. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. (October 2020)