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A de novo novel variant in the MT‐TD gene is associated with prominent extra‐neurologic manifestations.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 745, doi. 10.1111/cge.14594
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- Publication type:
- Article
Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives.
- Published in:
- Acta Biochimica et Biophysica Sinica, 2024, v. 56, n. 8, p. 1234, doi. 10.3724/abbs.2024128
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- Publication type:
- Article
Effects of Stratification on Wind‐Driven Upwelling Over a Coastal Valley.
- Published in:
- Journal of Geophysical Research. Oceans, 2024, v. 129, n. 10, p. 1, doi. 10.1029/2024JC021063
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- Publication type:
- Article
Seizure Outcome and Its Prognostic Predictors After Hemispherotomy in Children With Refractory Epilepsy in a Chinese Pediatric Epileptic Center.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00880
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- Publication type:
- Article
Clinical characteristics and post‐operative outcomes in children with malformation of cortical development related drug‐resistant epilepsy: 428 cases in one pediatric epilepsy center.
- Published in:
- CNS Neuroscience & Therapeutics, 2024, v. 30, n. 9, p. 1, doi. 10.1111/cns.70031
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- Publication type:
- Article
Long‐term seizure and developmental outcomes of epilepsy surgery in children under 3 years old: A single‐center study of 113 patients.
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- CNS Neuroscience & Therapeutics, 2024, v. 30, n. 1, p. 1, doi. 10.1111/cns.14481
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- Publication type:
- Article
Brain functional connectivity‐based prediction of vagus nerve stimulation efficacy in pediatric pharmacoresistant epilepsy.
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- CNS Neuroscience & Therapeutics, 2023, v. 29, n. 11, p. 3259, doi. 10.1111/cns.14257
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- Publication type:
- Article
Human-induced pluripotent stem cell-derived cerebral organoid of leukoencephalopathy with vanishing white matter.
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- CNS Neuroscience & Therapeutics, 2023, v. 29, n. 4, p. 1049, doi. 10.1111/cns.14079
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- Publication type:
- Article
A prediction model integrating synchronization biomarkers and clinical features to identify responders to vagus nerve stimulation among pediatric patients with drug‐resistant epilepsy.
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- CNS Neuroscience & Therapeutics, 2022, v. 28, n. 11, p. 1838, doi. 10.1111/cns.13923
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- Publication type:
- Article
Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration.
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- CNS Neuroscience & Therapeutics, 2020, v. 26, n. 7, p. 754, doi. 10.1111/cns.13294
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- Publication type:
- Article
Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians.
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- Journal of Child Neurology, 2020, v. 35, n. 13, p. 924, doi. 10.1177/0883073820940189
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- Publication type:
- Article
recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. e122, doi. 10.1093/brain/awac314
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- Article
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
- Published in:
- 2019
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- Publication type:
- journal article
Improving your genetic literacy in epilepsy-A new series.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 11, p. 1696, doi. 10.1111/epi.13203
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- Publication type:
- Article
In response: SCN8 A mutations in Chinese children with early onset epilepsy and intellectual disability.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 8, p. 1320, doi. 10.1111/epi.13059
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- Publication type:
- Article
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
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- Epilepsia (Series 4), 2015, v. 56, n. 3, p. 431, doi. 10.1111/epi.12925
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- Publication type:
- Article
ENSO and PDO-related interannual and interdecadal variations in the wintertime sea surface temperature in a typical subtropical strait.
- Published in:
- Climate Dynamics, 2022, v. 59, n. 11/12, p. 3359, doi. 10.1007/s00382-022-06270-9
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- Publication type:
- Article
New findings on the route of heat transport between the Indo-Pacific and Southern Ocean.
- Published in:
- Climate Dynamics, 2019, v. 52, n. 9/10, p. 5145, doi. 10.1007/s00382-018-4436-4
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- Publication type:
- Article
Front Cover.
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- Global Ecology & Biogeography, 2020, v. 29, n. 2, p. i, doi. 10.1111/geb.13067
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- Publication type:
- Article
Global warming and artificial shorelines reshape seashore biogeography.
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- Global Ecology & Biogeography, 2020, v. 29, n. 2, p. 220, doi. 10.1111/geb.13019
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- Publication type:
- Article
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
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- Journal of Human Genetics, 2013, v. 58, n. 4, p. 183, doi. 10.1038/jhg.2012.152
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- 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
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- 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
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- Publication type:
- Article
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
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- Journal of Human Genetics, 2010, v. 55, n. 8, p. 486, doi. 10.1038/jhg.2010.51
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- Publication type:
- Article
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 7, p. 421, doi. 10.1038/jhg.2010.39
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- 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
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- Publication type:
- Article
Comparing Statistical and Semi-Distributed Rainfall–Runoff Models for a Large Subtropical Watershed: A Case Study of Jiulong River Catchment, China.
- Published in:
- Atmosphere, 2019, v. 10, n. 2, p. 62, doi. 10.3390/atmos10020062
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- Publication type:
- Article
Physically modulated phytoplankton production and export at submesoscales in the oligotrophic South China Sea Basin.
- Published in:
- SCIENCE CHINA Earth Sciences, 2024, v. 67, n. 8, p. 2681, doi. 10.1007/s11430-023-1362-1
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- Publication type:
- Article
Modeling the contribution of the microbial carbon pump to carbon sequestration in the South China Sea.
- Published in:
- SCIENCE CHINA Earth Sciences, 2018, v. 61, n. 11, p. 1594, doi. 10.1007/s11430-017-9180-y
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- Publication type:
- Article
Subtidal variability in the Taiwan Strait induced by combined forcing of winter monsoon and topography.
- Published in:
- SCIENCE CHINA Earth Sciences, 2018, v. 61, n. 4, p. 483, doi. 10.1007/s11430-016-9132-9
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- Publication type:
- Article
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of <italic>NAGLU</italic> and <italic>CYP26B1</italic> missense variations in the same patient in a Chinese family.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0562-4
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- 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
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- Publication type:
- Article
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.
- Published in:
- Scientific Reports, 2016, p. 25954, doi. 10.1038/srep25954
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- Publication type:
- Article
The coastal ocean response to the global warming acceleration and hiatus.
- Published in:
- Scientific Reports, 2015, p. 16630, doi. 10.1038/srep16630
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- Publication type:
- Article
Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1 -Related Epilepsy and Genotype-Efficacy Correlation Analysis.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.834971
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- Publication type:
- Article
Impairment of Cardiac Autonomic Nerve Function in Pre-school Children With Intractable Epilepsy.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.632370
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- Publication type:
- Article
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141782
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- 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
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- 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
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- Publication type:
- Article
Clinical Diagnosis, Treatment, and <i>ALDH7A1</i> Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092803
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- Publication type:
- Article
Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033087
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- Publication type:
- Article
Pediatric neurology in China: challenges and solutions.
- Published in:
- 2018
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- Publication type:
- Editorial
Effective treatment of NR2F1-related epilepsy with perampanel.
- Published in:
- Acta Epileptologica, 2024, v. 6, n. 1, p. 1, doi. 10.1186/s42494-023-00145-0
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- Publication type:
- Article
Consensus on pediatric epilepsy surgery for young children: an investigation by the China Association Against Epilepsy task force on epilepsy surgery.
- Published in:
- Acta Epileptologica, 2023, v. 5, n. 1, p. 1, doi. 10.1186/s42494-023-00130-7
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- Publication type:
- Article
Surgical treatment of pediatric intractable frontal lobe epilepsy due to malformation of cortical development.
- Published in:
- Acta Epileptologica, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42494-022-00090-4
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- Publication type:
- Article
NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.
- Published in:
- 2014
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- Publication type:
- Letter
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
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
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- Publication type:
- Article
Cold water anomalies in the middle layer of the northern Taiwan Strait in spring—a numerical approach.
- Published in:
- Ocean Dynamics, 2020, v. 70, n. 12, p. 1571, doi. 10.1007/s10236-020-01412-1
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- Publication type:
- Article