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When lungs and weights tell different stories.
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 4, p. 1047, doi. 10.1002/ppul.26832
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- Publication type:
- Article
Vitamin C epigenetically controls osteogenesis and bone mineralization.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32915-8
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- Publication type:
- Article
Cross-Cultural Revision and Psychometric Properties of the Chinese Version of the Autism Spectrum Rating Scale (2–5 Years).
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00460
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- Publication type:
- Article
Modifying the Autism Spectrum Rating Scale (6-18 years) to a Chinese Context: An Exploratory Factor Analysis.
- Published in:
- Neuroscience Bulletin, 2017, v. 33, n. 2, p. 175, doi. 10.1007/s12264-017-0104-7
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- Publication type:
- Article
Chinese Norms for the Autism Spectrum Rating Scale.
- Published in:
- Neuroscience Bulletin, 2017, v. 33, n. 2, p. 161, doi. 10.1007/s12264-017-0105-6
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- Publication type:
- Article
Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the Brain.
- Published in:
- Neuroscience Bulletin, 2017, v. 33, n. 2, p. 205, doi. 10.1007/s12264-017-0112-7
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- Publication type:
- Article
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 935, doi. 10.1007/s10897-017-0193-5
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- Publication type:
- Article
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.
- Published in:
- 2017
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- Publication type:
- journal article
Loss of miR-23b/27b/24-1 Cluster Impairs Glucose Tolerance via Glycolysis Pathway in Mice.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 550, doi. 10.3390/ijms22020550
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- Publication type:
- Article
Identifying critical windows of air pollution exposure during preconception and gestational period on birthweight: a prospective cohort study.
- Published in:
- Environmental Health: A Global Access Science Source, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12940-023-01022-6
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- Publication type:
- Article
CDIO‐CT collaborative strategy for solving complex STEM problems in system modeling and simulation: An illustration of solving the period of mathematical pendulum.
- Published in:
- Computer Applications in Engineering Education, 2024, v. 32, n. 2, p. 1, doi. 10.1002/cae.22698
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- Publication type:
- Article
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2181
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- Publication type:
- Article
TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23735-3
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- Publication type:
- Article
Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs.
- Published in:
- Molecular Autism, 2024, v. 15, p. 1, doi. 10.1186/s13229-024-00587-4
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- Publication type:
- Article
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 426, doi. 10.1002/ajmg.b.32631
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- Publication type:
- Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
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- Publication type:
- Article
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1728, doi. 10.1002/ajmg.a.62693
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- Publication type:
- Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
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- Publication type:
- Article
Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder.
- Published in:
- Brain & Behavior, 2018, v. 8, n. 11, p. N.PAG, doi. 10.1002/brb3.1107
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- Publication type:
- Article
Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
- Published in:
- Scientific Reports, 2017, p. 46520, doi. 10.1038/srep46520
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- Publication type:
- Article
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
- Published in:
- Scientific Reports, 2017, p. 40319, doi. 10.1038/srep40319
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- Publication type:
- Article
A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 10, p. 1685, doi. 10.1002/aur.2353
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- Publication type:
- Article
Modeling autism in non‐human primates: Opportunities and challenges.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 5, p. 686, doi. 10.1002/aur.1945
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- Publication type:
- Article
A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca<sub>V</sub>1.2 Channel Window Current, and Arrhythmogenesis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106982
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- Publication type:
- Article
Pseudometabolic presentation of dystrophinopathy due to a missense mutation.
- Published in:
- Muscle & Nerve, 2010, v. 42, n. 6, p. 975, doi. 10.1002/mus.21823
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- Publication type:
- Article
Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41398-019-0608-1
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- Publication type:
- Article
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors.
- Published in:
- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0142-6
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- Publication type:
- Article
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.
- Published in:
- 2018
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- Publication type:
- Case Study
Application of chitosan nanoparticles in quality and preservation of postharvest fruits and vegetables: A review.
- Published in:
- Comprehensive Reviews in Food Science & Food Safety, 2023, v. 22, n. 3, p. 1722, doi. 10.1111/1541-4337.13128
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- Publication type:
- Article
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
- Published in:
- Journal of Genetic Counseling, 2016, v. 25, n. 5, p. 1019, doi. 10.1007/s10897-016-9933-1
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- Publication type:
- Article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 3, p. 436, doi. 10.1111/epi.13676
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- Publication type:
- Article
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 521, doi. 10.1111/cge.13635
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- Publication type:
- Article
Shank3 deficits in the anteromedial bed nucleus of the stria terminalis trigger an anxiety phenotype in mice.
- Published in:
- European Journal of Neuroscience, 2023, v. 57, n. 12, p. 1966, doi. 10.1111/ejn.16043
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- Publication type:
- Article
Quinidine in the treatment of KCNT1-positive epilepsies.
- Published in:
- 2015
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- Publication type:
- journal article
Transcriptome analysis identifies an ASD-Like phenotype in oligodendrocytes and microglia from C58/J amygdala that is dependent on sex and sociability.
- Published in:
- Behavioral & Brain Functions, 2024, v. 20, n. 1, p. 1, doi. 10.1186/s12993-024-00240-3
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- Publication type:
- Article
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1430, doi. 10.1093/hmg/ddab321
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- Publication type:
- Article
CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 561, doi. 10.1093/hmg/ddy367
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- Publication type:
- Article
5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 17, p. 2955, doi. 10.1093/hmg/ddy193
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- Publication type:
- Article
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1563, doi. 10.1093/hmg/ddt547
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- Publication type:
- Article
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 3093, doi. 10.1093/hmg/ddr212
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- Publication type:
- Article
p‐Aminobenzoic acid inhibits the growth of soybean pathogen Xanthomonas axonopodis pv. glycines by altering outer membrane integrity.
- Published in:
- Pest Management Science, 2023, v. 79, n. 10, p. 4083, doi. 10.1002/ps.7608
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- Publication type:
- Article
Dipicolinic acid enhances kiwifruit resistance to Botrytis cinerea by promoting phenolics accumulation.
- Published in:
- Pest Management Science, 2023, v. 79, n. 9, p. 3177, doi. 10.1002/ps.7496
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- Publication type:
- Article
Exogenous genistein enhances soybean resistance to Xanthomonas axonopodis pv. glycines.
- Published in:
- Pest Management Science, 2022, v. 78, n. 8, p. 3664, doi. 10.1002/ps.7009
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- Publication type:
- Article
Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome.
- Published in:
- European Journal of Neuroscience, 2014, v. 39, n. 6, p. 1018, doi. 10.1111/ejn.12442
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- Publication type:
- Article
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1816, doi. 10.1002/humu.24497
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- Publication type:
- Article
Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1635, doi. 10.1002/humu.22174
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- Publication type:
- Article
Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51037-x
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- Publication type:
- Article
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons.
- Published in:
- Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0244-2
- By:
- Publication type:
- Article
CRISPR/Cas9-induced <italic>shank3b</italic> mutant zebrafish display autism-like behaviors.
- Published in:
- Molecular Autism, 2018, v. 9, p. 1, doi. 10.1186/s13229-018-0204-x
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- Publication type:
- Article
Therapeutic approaches for shankopathies.
- Published in:
- Developmental Neurobiology (19328451), 2014, v. 74, n. 2, p. 123, doi. 10.1002/dneu.22084
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- Publication type:
- Article