Found: 32
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Phenotypic insights into ADCY5-associated disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 387, doi. 10.1093/hmg/ddq471
- By:
- Publication type:
- Article
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1497
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- Publication type:
- Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
- Published in:
- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6
- By:
- Publication type:
- Article
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0256181
- By:
- Publication type:
- Article
Microduplications of 16p11.2 are associated with schizophrenia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1223, doi. 10.1038/ng.474
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- Publication type:
- Article
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1056, doi. 10.1038/ng.209
- By:
- Publication type:
- Article
Genotype–phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 717, doi. 10.1002/ajmg.b.32679
- By:
- Publication type:
- Article
Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 8, p. 767, doi. 10.1002/ajmg.b.32572
- By:
- Publication type:
- Article
Genetic Heterogeneity According to Age at Onset in Bipolar Disorder: A Combined Positional Cloning and Candidate Gene Approach.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 6, p. 653, doi. 10.1002/ajmg.b.32069
- By:
- Publication type:
- Article
Identification of a CACNA2D4 Deletion in Late Onset Bipolar Disorder Patients and Implications for the Involvement of Voltage-Dependent Calcium Channels in Psychiatric Disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 4, p. 465, doi. 10.1002/ajmg.b.32053
- By:
- Publication type:
- Article
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 334, doi. 10.1111/cge.13456
- By:
- Publication type:
- Article
SORL1‐variant carriers in ADES‐ADSP: A higher level of variant pathogenicity associates with earlier age at onset of Alzheimer's disease: Genetics/genetic factors of Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.044492
- By:
- Publication type:
- Article
Exome sequencing identifies three novel AD‐associated genes: Genetics/genetic factors of Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.041592
- By:
- Publication type:
- Article
P2‐112: NEXT GENERATION EXOME SEQUENCING IN A LARGE SAMPLE OF ALZHEIMER'S PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P712, doi. 10.1016/j.jalz.2018.06.798
- By:
- Publication type:
- Article
Satisfaction with remote consultations in primary care during COVID-19: a population survey of UK adults.
- Published in:
- British Journal of General Practice, 2024, v. 74, n. 739, p. e96, doi. 10.3399/bjgp.2023.0092
- By:
- Publication type:
- Article
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1670, doi. 10.1172/JCI79765
- By:
- Publication type:
- Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00578
- By:
- Publication type:
- Article
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease.
- Published in:
- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0218111
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- Publication type:
- Article
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
- Published in:
- Journal of Dermatology, 2013, v. 40, n. 4, p. 259, doi. 10.1111/1346-8138.12082
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- Publication type:
- Article
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
- Published in:
- Movement Disorders, 2022, v. 37, n. 10, p. 2139, doi. 10.1002/mds.29147
- By:
- Publication type:
- Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1197, doi. 10.1002/humu.22901
- By:
- Publication type:
- Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
- By:
- Publication type:
- Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
- By:
- Publication type:
- Article
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00007
- By:
- Publication type:
- Article
Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
The cost-effectiveness of procalcitonin for guiding antibiotic prescribing in individuals hospitalized with COVID-19: part of the PEACH study.
- Published in:
- Journal of Antimicrobial Chemotherapy (JAC), 2024, v. 79, n. 8, p. 1831, doi. 10.1093/jac/dkae167
- By:
- Publication type:
- Article
Impact of introducing procalcitonin testing on antibiotic usage in acute NHS hospitals during the first wave of COVID-19 in the UK: a controlled interrupted time series analysis of organization-level data.
- Published in:
- Journal of Antimicrobial Chemotherapy (JAC), 2022, v. 77, n. 4, p. 1189, doi. 10.1093/jac/dkac017
- By:
- Publication type:
- Article
Procalcitonin Evaluation of Antibiotic Use in COVID-19 Hospitalised Patients (PEACH): Protocol for a Retrospective Observational Study.
- Published in:
- Methods & Protocols, 2022, v. 5, n. 6, p. 95, doi. 10.3390/mps5060095
- By:
- Publication type:
- Article
Reduced burden of very large and rare CNVs in bipolar affective disorder.
- Published in:
- Bipolar Disorders, 2013, v. 15, n. 8, p. 893, doi. 10.1111/bdi.12125
- By:
- Publication type:
- Article
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.055982
- By:
- Publication type:
- Article