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Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
- By:
- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
- By:
- Publication type:
- Article
George Eliot and Nineteenth-Century Psychology: Exploring the Unmapped Country.
- Published in:
- 2007
- By:
- Publication type:
- Book Review
Traumatic Pasts: History, Psychiatry and Trauma in the Modern Age, 1870-1930.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
Sciences of the Flesh: Representing Body and Subject in Psychoanalysis (Book).
- Published in:
- 2003
- By:
- Publication type:
- Book Review
Victorian Psychology and British Culture 1850--1888 (Book).
- Published in:
- 2002
- By:
- Publication type:
- Book Review
Book reviews.
- Published in:
- 1994
- By:
- Publication type:
- Book Review
Detective Fiction and Literature (Book).
- Published in:
- 1992
- By:
- Publication type:
- Book Review
Intellectual Women and Victorian Patriarchy (Book).
- Published in:
- 1989
- By:
- Publication type:
- Book Review
THE PLEASURES AND CHALLENGES OF DEGROWTH: A CONVERSATION WITH KATE SOPER.
- Published in:
- 2022
- By:
- Publication type:
- Interview
The role of innovation in advancing understanding of hydrological processes.
- Published in:
- Hydrological Processes, 2020, v. 34, n. 23, p. 4404, doi. 10.1002/hyp.13890
- By:
- Publication type:
- Article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
- By:
- Publication type:
- Article
DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2820, doi. 10.1093/hmg/ddt131
- By:
- Publication type:
- Article
Drink, illicit drugs and unsafe sex in women.
- Published in:
- Addiction, 1999, v. 94, n. 8, p. 1209, doi. 10.1046/j.1360-0443.1999.948120911.x
- By:
- Publication type:
- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
- By:
- Publication type:
- Article
'Experiments in time': rereading Darwin's Plots in 1999'.
- Published in:
- Journal of Victorian Culture, 2000, v. 5, n. 1, p. 129, doi. 10.3366/jvc.2000.5.1.129
- By:
- Publication type:
- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
- By:
- Publication type:
- Article
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
- By:
- Publication type:
- Article
Erratum to: A diffusion tensor imaging and neuropsychological study of prospective memory impairment in South African HIV positive individuals.
- Published in:
- 2013
- By:
- Publication type:
- Correction notice
A diffusion tensor imaging and neuropsychological study of prospective memory impairment in South African HIV positive individuals.
- Published in:
- Metabolic Brain Disease, 2012, v. 27, n. 3, p. 289, doi. 10.1007/s11011-012-9311-0
- By:
- Publication type:
- Article
Lack of Generalization of Auditory Learning in Typically Developing Children.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Lack of Generalization of Auditory Learning in Typically Developing Children.
- Published in:
- Journal of Speech, Language & Hearing Research, 2012, v. 55, n. 1, p. 168, doi. 10.1044/1092-4388(2011/09-0213)
- By:
- Publication type:
- Article
INTRODUCING MOOD WORK.
- Published in:
- New Formations, 2014, n. 82, p. 5, doi. 10.3898/NEWF.82.INTRODUCTION.2014
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- Publication type:
- Article
Editorial.
- Published in:
- New Formations, 2009, n. 67, p. 7, doi. 10.3898/NEWF.67.Editorial.2009
- By:
- Publication type:
- Article
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01150
- By:
- Publication type:
- Article
Human disease mapping.
- Published in:
- 1999
- By:
- Publication type:
- Book Review
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
- By:
- Publication type:
- Article
Remission of inflammatory bowel disease in glucose-6-phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation.
- Published in:
- Turkish Journal of Gastroenterology, 2019, v. 30, p. S711, doi. 10.5152/tjg.2019.050919
- By:
- Publication type:
- Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 717, doi. 10.1038/ng.3304
- By:
- Publication type:
- Article
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 699, doi. 10.1038/ng.2263
- By:
- Publication type:
- Article
A genome-wide association study of global gene expression.
- Published in:
- Nature Genetics, 2007, v. 39, n. 10, p. 1202, doi. 10.1038/ng2109
- By:
- Publication type:
- Article
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Relationship between apolipoprotein E4 genotype and white matter integrity in HIV-positive young adults in South Africa.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2013, v. 263, n. 3, p. 189, doi. 10.1007/s00406-012-0341-8
- By:
- Publication type:
- Article
Sequencing of human genomes with nanopore technology.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09637-5
- By:
- Publication type:
- Article
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355
- By:
- Publication type:
- Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
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- Publication type:
- Article
Patents and translational research in genomics.
- Published in:
- Nature Biotechnology, 2007, v. 25, n. 7, p. 739, doi. 10.1038/nbt0707-739
- By:
- Publication type:
- Article
Driving ability in people with dementia
- Published in:
- 2009
- By:
- Publication type:
- Abstract
A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data.
- Published in:
- Bioinformatics, 2021, v. 37, n. 2, p. 147, doi. 10.1093/bioinformatics/btaa672
- By:
- Publication type:
- Article
MichelaNglo: sculpting protein views on web pages without coding.
- Published in:
- Bioinformatics, 2020, v. 36, n. 10, p. 3268, doi. 10.1093/bioinformatics/btaa104
- By:
- Publication type:
- Article
Activation of an exonic splice-donor site in exon 30 of CDK5 RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 10, p. 952, doi. 10.1002/ccr3.663
- By:
- Publication type:
- Article
A prospective study of cognitive tests to predict performance on a standardised road test in people with dementia.
- Published in:
- International Journal of Geriatric Psychiatry, 2010, v. 25, n. 5, p. 489, doi. 10.1002/gps.2367
- By:
- Publication type:
- Article
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21878-x
- By:
- Publication type:
- Article
Motivation and Intelligence Drive Auditory Perceptual Learning.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009816
- By:
- Publication type:
- Article
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
- Published in:
- Journal of Pathology, 2018, v. 245, n. 3, p. 283, doi. 10.1002/path.5081
- By:
- Publication type:
- Article
Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 3, p. 412, doi. 10.1111/bjh.15406
- By:
- Publication type:
- Article
Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins.
- Published in:
- British Journal of Haematology, 2014, v. 166, n. 3, p. 435, doi. 10.1111/bjh.12910
- By:
- Publication type:
- Article
Failure to Maintain the Benefits of Home-Based Intervention in Adolescents With Poorly Controlled Type 1 Diabetes.
- Published in:
- Diabetes Care, 1999, v. 22, n. 12, p. 1933, doi. 10.2337/diacare.22.12.1933
- By:
- Publication type:
- Article
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
- Published in:
- Journal of Crohn's & Colitis, 2020, v. 14, n. 1, p. 142, doi. 10.1093/ecco-jcc/jjz112
- By:
- Publication type:
- Article