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Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00171-4
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- Article
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.
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- Hereditary Cancer in Clinical Practice, 2018, v. 16, n. 1, p. N.PAG, doi. 10.1186/s13053-018-0098-9
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- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
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- Article
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 10, p. 585, doi. 10.1002/gcc.23049
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- Article
Early prenatal diagnosis of the ICF syndrome.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 10, p. 828, doi. 10.1002/1097-0223(200010)20:10<828::AID-PD907>3.0.CO;2-B
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- Article
Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
- Published in:
- 2019
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- Publication type:
- Correction Notice
C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
- Published in:
- Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02537
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- Article
Schöpf‐Schulz‐Passarge syndrome with multiple angiomas on the tongue: a new feature?
- Published in:
- International Journal of Dermatology, 2021, v. 60, n. 5, p. 641, doi. 10.1111/ijd.15363
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- Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
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- Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 918, doi. 10.1038/sj.ejhg.5200557
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- Article
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report.
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00549-y
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- Publication type:
- Article
Collaborative knotworking – transforming clinical teaching practice through faculty development.
- Published in:
- BMC Medical Education, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12909-020-02407-8
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- Article
Participation in a clinical learning environment.
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- Clinical Teacher, 2015, v. 12, n. 4, p. 284, doi. 10.1111/tct.12305
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- Article
How workplace learning is put into practice: contrasting the medical and nursing contexts from the perspective of teaching and learning regimes.
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- Advances in Health Sciences Education, 2023, v. 28, n. 3, p. 811, doi. 10.1007/s10459-022-10195-7
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- Publication type:
- Article
Contradictions in clinical teachers' engagement in educational development: an activity theory analysis.
- Published in:
- 2019
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- Publication type:
- journal article
Faculty development participants' experiences of working with change in clinical settings.
- Published in:
- Medical Education, 2023, v. 57, n. 7, p. 679, doi. 10.1111/medu.14992
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- Article
Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival.
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- International Journal of Cancer, 2006, v. 118, n. 8, p. 2092, doi. 10.1002/ijc.21579
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- Article
Navigating Affordances for Learning in Clinical Workplaces: A Qualitative Study of General Practitioners' Continued Professional Development.
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- Vocations & Learning, 2022, v. 15, n. 3, p. 427, doi. 10.1007/s12186-022-09295-7
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- Publication type:
- Article
Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) after treatment with cyclophosphamide, α-interferon and betamethasone in a patient with multiple myeloma.
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- European Journal of Haematology, 1996, v. 56, n. 5, p. 323, doi. 10.1111/j.1600-0609.1996.tb00724.x
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- Article
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
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- 2019
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- Publication type:
- journal article
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
To belong or not to belong: nursing students' interactions with clinical learning environments - an observational study.
- Published in:
- BMC Medical Education, 2016, v. 16, p. 1, doi. 10.1186/s12909-016-0721-2
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- Publication type:
- Article
Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.
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- Acta Ophthalmologica (1755375X), 2009, v. 87, n. 6, p. 659, doi. 10.1111/j.1755-3768.2008.01308.x
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- Publication type:
- Article
A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.
- Published in:
- Acta Ophthalmologica (1755375X), 2008, v. 86, n. 7, p. 758, doi. 10.1111/j.1600-0420.2007.01123.x
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- Article
Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes.
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- Familial Cancer, 2012, v. 11, n. 3, p. 355, doi. 10.1007/s10689-012-9520-z
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- Publication type:
- Article
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
- Published in:
- Familial Cancer, 2010, v. 9, n. 2, p. 245, doi. 10.1007/s10689-009-9312-2
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- Publication type:
- Article
Congenital dyserythropoietic anemia type 1: A case with novel compound heterozygous mutations in the C15orf41 gene.
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- American Journal of Hematology, 2018, v. 93, n. 8, p. E213, doi. 10.1002/ajh.25157
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- Publication type:
- Article
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
- Published in:
- PLoS ONE, 2022, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0264056
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- Publication type:
- Article
Women with Ehlers-Danlos Syndrome Experience Low Oral Health-Related Quality of Life.
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- Journal of Orofacial Pain, 2012, v. 26, n. 4, p. 307
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- Article
Genetic variation in ICF syndrome: Evidence for genetic heterogeneity.
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- Human Mutation, 2000, v. 16, n. 6, p. 509, doi. 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V
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- Publication type:
- Article