36 results on '"Zhu, Wenmiao"'
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2. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
3. Combustion synthesis of TiO2/C composites for enhanced photocatalytic H2O2 production and solar steam evaporation efficiency
4. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
5. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
6. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
7. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
8. Additional file 3 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
9. Additional file 2 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
10. Deadenylation Is Prerequisite for P-Body Formation and mRNA Decay in Mammalian Cells
11. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
12. Author response for 'PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy'
13. A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.
14. Barth syndrome caused by a novel TAZ deletion through an alu element-mediated mechanism: a case report
15. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
16. Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1
17. PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
18. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome
19. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
20. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
21. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
22. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability
23. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities
24. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
25. Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
26. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
27. Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
28. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
29. Human TOB, an Antiproliferative Transcription Factor, Is a Poly(A)-Binding Protein-Dependent Positive Regulator of Cytoplasmic mRNA Deadenylation
30. Versatile applications of transcriptional pulsing to study mRNA turnover in mammalian cells
31. Concerted action of poly(A) nucleases and decapping enzyme in mammalian mRNA turnover
32. UNR, a new partner of poly(A)-binding protein, plays a key role in translationally coupled mRNA turnover mediated by the c-fos major coding-region determinant
33. Production, partial purification and characterization of xylanase from Trichosporon cutaneum SL409
34. Functional dissection of hnRNP D suggests that nuclear import is required before hnRNP D can modulate mRNA turnover in the cytoplasm.
35. eP142 - Barth syndrome caused by a novel TAZ deletion through an alu element-mediated mechanism: a case report.
36. UNR, a new partner of poly(A)-binding protein, plays a key role in translationally coupled mRNA turnover mediated by the c-fos major coding-region determinant.
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