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The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
- Published in:
- 2018
- By:
- Publication type:
- letter
Sulfonic Zwitterion for Passivating Deep and Shallow Level Defects in Perovskite Light‐Emitting Diodes.
- Published in:
- Advanced Functional Materials, 2022, v. 32, n. 22, p. 1, doi. 10.1002/adfm.202111578
- By:
- Publication type:
- Article
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
- Published in:
- Human Genetics, 2012, v. 131, n. 7, p. 1217, doi. 10.1007/s00439-012-1149-3
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- Publication type:
- Article
Highly Hydrophilic Carbon Dots' Decoration on NiCo<sub>2</sub>O<sub>4</sub> Nanowires for Greatly Increased Electric Conductivity, Supercapacitance, and Energy Density.
- Published in:
- Advanced Materials Interfaces, 2019, v. 6, n. 9, p. N.PAG, doi. 10.1002/admi.201900049
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- Publication type:
- Article
A Giant Magneto‐Superelasticity of 5% Enabled by Introducing Ordered Dislocations in Ni<sub>34</sub>Co<sub>8</sub>Cu<sub>8</sub>Mn<sub>36</sub>Ga<sub>14</sub> Single Crystal.
- Published in:
- Advanced Science, 2024, v. 11, n. 25, p. 1, doi. 10.1002/advs.202401234
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- Publication type:
- Article
Alternative Performance Indices-Based Control Technique for a Unity Power Factor Three-Phase Rectifier.
- Published in:
- Electronics (2079-9292), 2024, v. 13, n. 3, p. 604, doi. 10.3390/electronics13030604
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- Publication type:
- Article
Preparation and evaluation of tamsulosin hydrochloride sustained-release pellets modified by two-layered membrane techniques.
- Published in:
- Asian Journal of Pharmaceutical Sciences, 2015, v. 10, n. 1, p. 31, doi. 10.1016/j.ajps.2014.08.009
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- Publication type:
- Article
A New Exploration for Gallbladder Polyps: Gallbladder Polypectomy by Endolap Technique.
- Published in:
- Journal of Laparoendoscopic & Advanced Surgical Techniques, 2014, v. 24, n. 12, p. 852, doi. 10.1089/lap.2014.0418
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- Publication type:
- Article
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0794-y
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- Publication type:
- Article
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0811-1
- By:
- Publication type:
- Article
A Highly Stable Organic Luminescent Diradical.
- Published in:
- Angewandte Chemie, 2023, v. 135, n. 15, p. 1, doi. 10.1002/ange.202300772
- By:
- Publication type:
- Article
Performance and mechanism of triclosan removal in simultaneous nitrification and denitrification (SND) process under low-oxygen condition.
- Published in:
- Applied Microbiology & Biotechnology, 2017, v. 101, n. 4, p. 1653, doi. 10.1007/s00253-016-7952-3
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- Publication type:
- Article
Triclosan removal in wetlands constructed with different aquatic plants.
- Published in:
- Applied Microbiology & Biotechnology, 2016, v. 100, n. 3, p. 1459, doi. 10.1007/s00253-015-7063-6
- By:
- Publication type:
- Article
Nonvolatile Electric Control of the Anomalous Hall Effect in an Ultrathin Magnetic Metal.
- Published in:
- Advanced Electronic Materials, 2020, v. 6, n. 2, p. N.PAG, doi. 10.1002/aelm.201901084
- By:
- Publication type:
- Article
Hybrid Supercapacitors Based on Interwoven CoO‐NiO‐ZnO Nanowires and Porous Graphene Hydrogel Electrodes with Safe Aqueous Electrolyte for High Supercapacitance.
- Published in:
- Advanced Electronic Materials, 2019, v. 5, n. 12, p. N.PAG, doi. 10.1002/aelm.201900397
- By:
- Publication type:
- Article
Family Dinner and the Happiness of Chinese Adolescents: Identifying Mediators and Moderators.
- Published in:
- Journal of Youth & Adolescence, 2020, v. 49, n. 8, p. 1674, doi. 10.1007/s10964-020-01275-1
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- Publication type:
- Article
A High Efficiency Self-Powered Rectifier for Piezoelectric Energy Harvesting Systems.
- Published in:
- Journal of Circuits, Systems & Computers, 2016, v. 25, n. 12, p. -1, doi. 10.1142/S0218126616501644
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- Publication type:
- Article
A 20-mV Input DC/DC Converter for Energy Harvesting Applications.
- Published in:
- Journal of Circuits, Systems & Computers, 2015, v. 24, n. 5, p. -1, doi. 10.1142/S021812661550070X
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- Publication type:
- Article
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 568, doi. 10.1002/humu.24347
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- Publication type:
- Article
Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 8, p. 1285, doi. 10.3390/cells11081285
- By:
- Publication type:
- Article
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.729777
- By:
- Publication type:
- Article
Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
- Published in:
- SCIENCE CHINA Life Sciences, 2023, v. 66, n. 8, p. 1858, doi. 10.1007/s11427-022-2290-1
- By:
- Publication type:
- Article
Purification and antioxidant and anti‐Inflammatory activity of extracellular polysaccharopeptide from sanghuang mushroom, Sanghuangporus lonicericola.
- Published in:
- Journal of the Science of Food & Agriculture, 2021, v. 101, n. 3, p. 1009, doi. 10.1002/jsfa.10709
- By:
- Publication type:
- Article
Silencing LncRNA CASC9 inhibits proliferation and invasion of colorectal cancer cells by MiR-542-3p/ILK.
- Published in:
- PLoS ONE, 2022, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0265901
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- Publication type:
- Article
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1136, doi. 10.1002/ana.26766
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- Publication type:
- Article
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1053, doi. 10.1002/pd.6628
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- Publication type:
- Article
A Multi-imputation Method to Deal With Hydro-Meteorological Missing Values by Integrating Chain Equations and Random Forest.
- Published in:
- Water Resources Management, 2022, v. 36, n. 4, p. 1159, doi. 10.1007/s11269-021-03037-5
- By:
- Publication type:
- Article
Climate-driven Model Based on Long Short-Term Memory and Bayesian Optimization for Multi-day-ahead Daily Streamflow Forecasting.
- Published in:
- Water Resources Management, 2022, v. 36, n. 1, p. 21, doi. 10.1007/s11269-021-03002-2
- By:
- Publication type:
- Article
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53484-9
- By:
- Publication type:
- Article
Encapsulation and characterisation of grape seed proanthocyanidin extract using sodium alginate and different cellulose derivatives.
- Published in:
- International Journal of Food Science & Technology, 2021, v. 56, n. 12, p. 6420, doi. 10.1111/ijfs.15299
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- Publication type:
- Article
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
- Published in:
- BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0394-8
- By:
- Publication type:
- Article
Efficient and Bright Deep‐Red Light‐Emitting Diodes based on a Lateral 0D/3D Perovskite Heterostructure.
- Published in:
- Advanced Materials, 2024, v. 36, n. 20, p. 1, doi. 10.1002/adma.202207301
- By:
- Publication type:
- Article
Continuous‐Wave Lasing in Perovskite LEDs with an Integrated Distributed Feedback Resonator.
- Published in:
- Advanced Materials, 2023, v. 35, n. 44, p. 1, doi. 10.1002/adma.202303144
- By:
- Publication type:
- Article
Rearrangement structure-independent strategy of CNV breakpoint analysis.
- Published in:
- Molecular Genetics & Genomics, 2014, v. 289, n. 5, p. 755, doi. 10.1007/s00438-014-0850-4
- By:
- Publication type:
- Article
Deletion of a Putative GPI-Anchored Protein-Encoding Gene Aog185 Impedes the Growth and Nematode-Trapping Efficiency of Arthrobotrys oligospora by Disrupting Transmembrane Transport Homeostasis.
- Published in:
- Cellular Microbiology, 2022, p. 1, doi. 10.1155/2022/8738290
- By:
- Publication type:
- Article
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 4, p. 183, doi. 10.1038/jhg.2012.152
- By:
- Publication type:
- Article
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 4, p. 300, doi. 10.1038/jhg.2011.9
- By:
- Publication type:
- Article
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 2, p. 138, doi. 10.1038/jhg.2010.146
- By:
- Publication type:
- Article
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 8, p. 486, doi. 10.1038/jhg.2010.51
- By:
- Publication type:
- Article
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 2, p. 74, doi. 10.1038/jhg.2008.10
- By:
- Publication type:
- Article
Infantile Pertussis Rediscovered in China.
- Published in:
- Emerging Infectious Diseases, 2002, v. 8, n. 8, p. 859, doi. 10.3201/eid0808.010442
- By:
- Publication type:
- Article
A Comprehensive Update of Cerebral Organoids between Applications and Challenges.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2022, p. 1, doi. 10.1155/2022/7264649
- By:
- Publication type:
- Article
A Highly Stable Organic Luminescent Diradical.
- Published in:
- Angewandte Chemie International Edition, 2023, v. 62, n. 15, p. 1, doi. 10.1002/anie.202300772
- By:
- Publication type:
- Article
Optimal Day-Ahead Bidding Strategy for Electricity Retailer with Inner-Outer 2-Layer Model System Based on Stochastic Mixed-Integer Optimization.
- Published in:
- Mathematical Problems in Engineering, 2019, p. 1, doi. 10.1155/2019/4185952
- By:
- Publication type:
- Article
A highly efficient open-shell singlet luminescent diradical with strong magnetoluminescence properties.
- Published in:
- Light: Science & Applications, 2023, v. 12, n. 1, p. 1, doi. 10.1038/s41377-023-01314-z
- By:
- Publication type:
- Article
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1927, doi. 10.1093/hmg/ddx102
- By:
- Publication type:
- Article
Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0118001
- By:
- Publication type:
- Article
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109749
- By:
- Publication type:
- Article