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Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1.
- Published in:
- Human Genetics, 2008, v. 124, n. 2, p. 155, doi. 10.1007/s00439-008-0533-5
- By:
- Publication type:
- Article
COX-2 gene expression in colon cancer tissue related to regulating factors and promoter methylation status.
- Published in:
- BMC Cancer, 2011, v. 11, n. 1, p. 238, doi. 10.1186/1471-2407-11-238
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
- Published in:
- Journal of Internal Medicine, 2024, v. 296, n. 3, p. 234, doi. 10.1111/joim.13815
- By:
- Publication type:
- Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
- By:
- Publication type:
- Article
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 528, doi. 10.1111/cge.13448
- By:
- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. i, doi. 10.1111/cge.13478
- By:
- Publication type:
- Article
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation.
- Published in:
- Human Mutation, 2022, v. 43, n. 11, p. 1567, doi. 10.1002/humu.24440
- By:
- Publication type:
- Article
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 708, doi. 10.1002/humu.24358
- By:
- Publication type:
- Article
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
- By:
- Publication type:
- Article
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 405, doi. 10.1038/sj.ejhg.5201777
- By:
- Publication type:
- Article
Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.
- Published in:
- Acta Ophthalmologica (1755375X), 2009, v. 87, n. 6, p. 659, doi. 10.1111/j.1755-3768.2008.01308.x
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Genes with Relevance for Early to Late Progression of Colon Carcinoma Based on Combined Genomic and Transcriptomic Information from the Same Patients.
- Published in:
- Cancer Informatics, 2010, n. 8, p. 79
- By:
- Publication type:
- Article
The Valine Allele of the V89L Polymorphism in the 5-α-Reductase Gene Confers a Reduced Risk for Hypospadias.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 12, p. 6695, doi. 10.1210/jc.2005-0446
- By:
- Publication type:
- Article
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2007, v. 99, n. 4, p. 291, doi. 10.1093/jnci/djk051
- By:
- Publication type:
- Article
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1880
- By:
- Publication type:
- Article
Universal testing in endometrial cancer in Sweden.
- Published in:
- Hereditary Cancer in Clinical Practice, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s13053-024-00288-2
- By:
- Publication type:
- Article
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 12, p. 706, doi. 10.1038/jhg.2009.101
- By:
- Publication type:
- Article
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
- Published in:
- Oncology Reports, 2016, v. 36, n. 5, p. 2823, doi. 10.3892/or.2016.5060
- By:
- Publication type:
- Article
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.
- Published in:
- British Journal of Haematology, 2012, v. 158, n. 3, p. 363, doi. 10.1111/j.1365-2141.2012.09171.x
- By:
- Publication type:
- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
- By:
- Publication type:
- Article
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.
- Published in:
- International Journal of Endocrinology, 2012, p. 1, doi. 10.1155/2012/504904
- By:
- Publication type:
- Article
<i>GSTM1</i> Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0080114
- By:
- Publication type:
- Article
Uncoupling of Natural IgE Production and CD23 Surface Expression Levels.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062851
- By:
- Publication type:
- Article
A Randomized Sham-Controlled Mixed Methods Pilot Study of the Feasibility of Acupuncture for Chemotherapy-Induced Neuropathy: Lessons Learned From Patient Experiences in Integrative Cancer Care.
- Published in:
- Integrative Cancer Therapies, 2023, v. 22, p. 1, doi. 10.1177/15347354231178877
- By:
- Publication type:
- Article
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94316-z
- By:
- Publication type:
- Article
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 19, p. 2303, doi. 10.1093/hmg/ddh238
- By:
- Publication type:
- Article
Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 4, p. 627, doi. 10.1093/hmg/6.4.627
- By:
- Publication type:
- Article
Molecular and phenotypic variation in patients with severe Hunter syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 479, doi. 10.1093/hmg/6.3.479
- By:
- Publication type:
- Article
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
- Published in:
- Familial Cancer, 2018, v. 17, n. 4, p. 531, doi. 10.1007/s10689-017-0067-x
- By:
- Publication type:
- Article
The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer.
- Published in:
- Familial Cancer, 2006, v. 5, n. 4, p. 353, doi. 10.1007/s10689-006-0005-9
- By:
- Publication type:
- Article
The BRCA1 exon 13 duplication in the Swedish population.
- Published in:
- Familial Cancer, 2005, v. 4, n. 2, p. 191, doi. 10.1007/s10689-004-7023-2
- By:
- Publication type:
- Article
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224
- By:
- Publication type:
- Article
Leiden open variation database of the MUTYH gene.
- Published in:
- 2010
- By:
- Publication type:
- Other
Massive parallel sequencing in a family with rectal cancer.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00181-2
- By:
- Publication type:
- Article
Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients.
- Published in:
- Hereditary Cancer in Clinical Practice, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s13053-020-00145-y
- By:
- Publication type:
- Article
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.
- Published in:
- Hereditary Cancer in Clinical Practice, 2018, v. 16, n. 1, p. N.PAG, doi. 10.1186/s13053-018-0098-9
- By:
- Publication type:
- Article
Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 10, p. 585, doi. 10.1002/gcc.23049
- By:
- Publication type:
- Article
Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes.
- Published in:
- Genes, Chromosomes & Cancer, 2019, v. 58, n. 11, p. 775, doi. 10.1002/gcc.22786
- By:
- Publication type:
- Article
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
- Published in:
- Genome Medicine, 2015, v. 7, p. 1, doi. 10.1186/s13073-015-0244-1
- By:
- Publication type:
- Article
Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 266, doi. 10.1002/ajmg.a.37387
- By:
- Publication type:
- Article
Partial tetrasomy 14 associated with multiple malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1284, doi. 10.1002/ajmg.a.35887
- By:
- Publication type:
- Article
Identification of known and novel familial cancer genes in Swedish colorectal cancer families.
- Published in:
- International Journal of Cancer, 2021, v. 149, n. 3, p. 627, doi. 10.1002/ijc.33567
- By:
- Publication type:
- Article
The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162638
- By:
- Publication type:
- Article
Double de novo mutations of ELANE ( ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Genetic anticipation in Swedish Lynch syndrome families.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.pgen.1007012
- By:
- Publication type:
- Article
Atypical Interference in Hb A<sub>1c</sub> Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants.
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 9, p. 1185, doi. 10.1093/clinchem/hvae091
- By:
- Publication type:
- Article