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Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
- Published in:
- Molecular Medicine, 2016, v. 22, n. 1, p. 183, doi. 10.2119/molmed.2015.00244
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- Publication type:
- Article
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 183, doi. 10.2119/molmed.2015.00244
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- Publication type:
- Article
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.
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- Human Genetics, 2003, v. 113, n. 1, p. 92, doi. 10.1007/s00439-003-0938-0
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- Publication type:
- Article
Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics.
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- Rheumatology, 2009, v. 48, n. 8, p. 987, doi. 10.1093/rheumatology/kep140
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- Publication type:
- Article
12′-Apo-β-caroten-12′-al: An Ultrafast 'Spy' Molecule for Probing Local Interactions in Ionic Liquids.
- Published in:
- Angewandte Chemie International Edition, 2010, v. 49, n. 12, p. 2230, doi. 10.1002/anie.200906046
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- Publication type:
- Article
Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.
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- Neurogenetics, 2012, v. 13, n. 1, p. 83, doi. 10.1007/s10048-011-0305-6
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- Publication type:
- Article
D324N single‐nucleotide polymorphism in the FLT3 gene is associated with higher risk of myeloid leukemias.
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- Genes, Chromosomes & Cancer, 2006, v. 45, n. 4, p. 332, doi. 10.1002/gcc.20294
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- Publication type:
- Article
Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease.
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- Immunogenetics, 2006, v. 58, n. 2/3, p. 99, doi. 10.1007/s00251-005-0073-2
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- Publication type:
- Article
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 510, doi. 10.1038/sj.ejhg.5201352
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- Publication type:
- Article
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
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- Pediatric Rheumatology, 2015, v. 11, p. 1, doi. 10.1186/s12969-015-0041-9
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- Publication type:
- Article
Amyloid in endomyocardial biopsies.
- Published in:
- 2010
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- Publication type:
- journal article
Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation.
- Published in:
- 2008
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- Publication type:
- journal article
Three German fibrinogen Aα-chain amyloidosis patients with the p.Glu526Val mutation.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2008, v. 453, n. 1, p. 25, doi. 10.1007/s00428-008-0619-4
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- Publication type:
- Article
Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma.
- Published in:
- 2013
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- Publication type:
- Letter
Peripheral Hole Acceptor Moieties on an Organic Dye Improve Dye‐Sensitized Solar Cell Performance.
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- Advanced Science, 2015, v. 2, n. 11, p. 1, doi. 10.1002/advs.201500174
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- Publication type:
- Article
Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever.
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- Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3010, doi. 10.1002/art.39784
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- Publication type:
- Article
Urticaria, Fever, and Hypofibrinogenemia.
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- Arthritis & Rheumatology, 2014, v. 66, n. 5, p. 1377, doi. 10.1002/art.38345
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- Publication type:
- Article
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation,
- Published in:
- 2011
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- Publication type:
- Journal Article
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
- Published in:
- ISRN Pediatrics, 2011, p. 1, doi. 10.5402/2011/676549
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- Publication type:
- Article
A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 1, p. 41, doi. 10.1159/000335929
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- Publication type:
- Article
Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 9/10, p. 991, doi. 10.1515/jpem-2012-0103
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- Publication type:
- Article
T-cell receptor excision circles: a novel prognostic parameter for the outcome of transplantation in multiple myeloma patients.
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- British Journal of Haematology, 2003, v. 122, n. 5, p. 795, doi. 10.1046/j.1365-2141.2003.04482.x
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- Publication type:
- Article
Disease Activity, ANCA, and IL23R Genotype Status Determine Early Response to Infliximab in Patients With Ulcerative Colitis.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2010, v. 105, n. 8, p. 1811, doi. 10.1038/ajg.2010.95
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- Publication type:
- Article
Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease.
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- American Journal of Gastroenterology (Springer Nature), 2009, v. 104, n. 7, p. 1737, doi. 10.1038/ajg.2009.163
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- Publication type:
- Article
Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2009, v. 104, n. 7, p. 1723, doi. 10.1038/ajg.2009.184
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- Publication type:
- Article
rs224136 on Chromosome 10q21.1 and Variants in PHOX2B, NCF4, and FAM92B Are Not Major Genetic Risk Factors for Susceptibility to Crohn's Disease in the German Population.
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- American Journal of Gastroenterology (Springer Nature), 2009, v. 104, n. 3, p. 665, doi. 10.1038/ajg.2008.65
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- Publication type:
- Article
The ATG16L1 Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population.
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- American Journal of Gastroenterology (Springer Nature), 2008, v. 103, n. 3, p. 682, doi. 10.1111/j.1572-0241.2007.01694.x
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- Publication type:
- Article
Increased Expression of the Chemokine Fractalkine in Crohn's Disease and Association of the Fractalkine Receptor T280M Polymorphism with a Fibrostenosing Disease Phenotype.
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- American Journal of Gastroenterology (Springer Nature), 2006, v. 101, n. 1, p. 99, doi. 10.1111/j.1572-0241.2005.00361.x
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- Publication type:
- Article
12′-Apo-β-carotin-12′-al: ein ultraschnelles 'Spionage'-Molekül für die Untersuchung lokaler Wechselwirkungen in ionischen Flüssigkeiten.
- Published in:
- Angewandte Chemie, 2010, v. 122, n. 12, p. 2277, doi. 10.1002/ange.200906046
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- Publication type:
- Article
Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients – expanding phenotype of CIAS1 related autoinflammatory syndrome.
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- European Journal of Haematology, 2004, v. 73, n. 2, p. 123, doi. 10.1111/j.1600-0609.2004.00270.x
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- Publication type:
- Article
The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0108503
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- Publication type:
- Article
Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069757
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- Publication type:
- Article
CEACAM6 Gene Variants in Inflammatory Bowel Disease.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019319
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- Publication type:
- Article
The NOD2 Single Nucleotide Polymorphisms rs2066843 and rs2076756 Are Novel and Common Crohn's Disease Susceptibility Gene Variants.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014466
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- Publication type:
- Article
Evidence for STAT4 as a Common Autoimmune Gene: rs7574865 Is Associated with Colonic Crohn's Disease and Early Disease Onset.
- Published in:
- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010373
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- Publication type:
- Article
The Cannabinoid 1 Receptor (CNR1) 1359 G/A Polymorphism Modulates Susceptibility to Ulcerative Colitis and the Phenotype in Crohn's Disease.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009453
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- Publication type:
- Article
Generating addressable protein microarrays with PROfusion™ covalent mRNA-protein fusion technology.
- Published in:
- Proteomics, 2002, v. 2, n. 1, p. 48, doi. 10.1002/1615-9861(200201)2:1<48::AID-PROT48>3.0.CO;2-I
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- Publication type:
- Article
The number of dichorionic twin pregnancies is reduced by the common MTHFR 677C-->T mutation.
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- 2000
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- Publication type:
- journal article
Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn's disease and active smoking status resulting in ileal stenosis requiring surgery.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0236421
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- Publication type:
- Article
Categorizing diffuse parenchymal lung disease in children.
- Published in:
- 2015
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- Publication type:
- journal article
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 171, doi. 10.1186/s13023-014-0171-z
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- Publication type:
- Article
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
- Published in:
- 2014
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- Publication type:
- journal article
Ein Fall von Muckle‐Wells‐Syndrom mit einer neuen NLRP3‐Mutation.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 10, p. 1250, doi. 10.1111/ddg.13640_g
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- Publication type:
- Article
A Case of Muckle‐Wells Syndrome due to novel NLRP3 mutation.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 10, p. 1250, doi. 10.1111/ddg.13640
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- Publication type:
- Article
Ribozyme-catalysed amino-acid transfer reactions.
- Published in:
- Nature, 1996, v. 381, n. 6581, p. 442, doi. 10.1038/381442a0
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- Publication type:
- Article
Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation.
- Published in:
- 2004
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- Publication type:
- journal article
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.
- Published in:
- Arthritis Research & Therapy, 2013, v. 15, n. 3, p. 1, doi. 10.1186/ar4237
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- Publication type:
- Article
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
- Published in:
- Arthritis Research & Therapy, 2011, v. 13, n. 6, p. 3526, doi. 10.1186/ar3526
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- Publication type:
- Article
Autophagy 16-like 1 rs2241880 G allele is associated with Crohn's disease in German children.
- Published in:
- 2009
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- Publication type:
- journal article
Autophagy 16-like 1 rs2241880 G allele is associated with Crohn’s disease in German children.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 11, p. 1835, doi. 10.1111/j.1651-2227.2009.01438.x
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- Publication type:
- Article