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Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 3, p. 303, doi. 10.4103/0378-6323.152744
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- Publication type:
- Article
Curriculum „Trachealkanülenmanagement in der Dysphagietherapie".
- Published in:
- Der Nervenarzt, 2024, v. 95, n. 4, p. 342, doi. 10.1007/s00115-023-01598-x
- By:
- Publication type:
- Article
Hair loss, facial dysmorphology, and skeletal alterations – a diagnostic challenge.
- Published in:
- International Journal of Dermatology, 2021, v. 60, n. 10, p. e419, doi. 10.1111/ijd.15718
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- Publication type:
- Article
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 6, p. 536, doi. 10.1111/exd.13123
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- Publication type:
- Article
Genetics and other factors in the aetiology of female pattern hair loss.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 6, p. 510, doi. 10.1111/exd.13373
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- Publication type:
- Article
Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 ( P2 RY5) gene in a Turkish family with hypotrichosis and woolly hair.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 6, p. 469, doi. 10.1111/j.1600-0625.2012.01504.x
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- Publication type:
- Article
Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 5, p. 390, doi. 10.1111/j.1600-0625.2012.01469.x
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- Publication type:
- Article
End-stage renal disease and dialysis in HIV-positive patients: observations from a long-term cohort study with a follow-up of 22 years.
- Published in:
- HIV Medicine, 2013, v. 14, n. 3, p. 127, doi. 10.1111/j.1468-1293.2012.01045.x
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- Publication type:
- Article
Multifunctional fibre optic sensors monitoring strain and ultrasound.
- Published in:
- Fatigue & Fracture of Engineering Materials & Structures, 2008, v. 31, n. 8, p. 660, doi. 10.1111/j.1460-2695.2008.01250.x
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- Publication type:
- Article
Genome-wide shRNA screen reveals increased mitochondrial dependence upon mTORC2 addiction.
- Published in:
- Oncogene, 2011, v. 30, n. 13, p. 1551, doi. 10.1038/onc.2010.539
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- Publication type:
- Article
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 5966, doi. 10.1038/ncomms6966
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- Publication type:
- Article
Probing the limits of gate-based charge sensing.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 6084, doi. 10.1038/ncomms7084
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- Publication type:
- Article
Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0256846
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- Publication type:
- Article
Dermatological diseases from a genetic perspective.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 1, p. 1, doi. 10.1515/medgen-2023-2009
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- Publication type:
- Article
Recent advances in the genetics of alopecia areata.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 1, p. 15, doi. 10.1515/medgen-2023-2004
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- Publication type:
- Article
The FU gene and its possible protein isoforms.
- Published in:
- BMC Genomics, 2004, v. 5, p. 1, doi. 10.1186/1471-2164-5-49
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- Publication type:
- Article
Investigation of the functional variant c.-169T > C of the Fc receptor-like 3 ( FCRL3) gene in alopecia areata.
- Published in:
- International Journal of Immunogenetics, 2006, v. 33, n. 6, p. 393, doi. 10.1111/j.1744-313X.2006.00633.x
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- Publication type:
- Article
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 717, doi. 10.3390/genes14030717
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- Publication type:
- Article
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 80, doi. 10.3390/genes12010080
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- Publication type:
- Article
Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- 2009
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- Publication type:
- Correction notice
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 228, doi. 10.1038/ng.276
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- Publication type:
- Article
G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 329, doi. 10.1038/ng.84
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- Publication type:
- Article
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
- Published in:
- Nature Genetics, 2003, v. 34, n. 2, p. 151, doi. 10.1038/ng1163
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- Publication type:
- Article
Detection of squamous cell carcinoma of the oral cavity by imaging 5-aminolevulinic acid-induced protoporphyrin IX fluorescence.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Larynxpapillomatose.
- Published in:
- HNO, 2008, v. 56, n. 12, p. 1190, doi. 10.1007/s00106-008-1711-4
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- Publication type:
- Article
Wundheilungsstörung nach Tonsillektomie.
- Published in:
- HNO, 2008, v. 56, n. 7, p. 717, doi. 10.1007/s00106-007-1568-y
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- Publication type:
- Article
Das zervikale Hautemphysem.
- Published in:
- HNO, 2007, v. 55, n. 2, p. 121, doi. 10.1007/s00106-006-1389-4
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- Publication type:
- Article
Myxomatöse Neoplasien des Nasenseptums.
- Published in:
- HNO, 2007, v. 55, n. 1, p. 51, doi. 10.1007/s00106-005-1369-0
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- Publication type:
- Article
Adenokarzinom des Tränensackes nach endonasaler Dakryozystorhinostomie.
- Published in:
- HNO, 2005, v. 53, n. 3, p. 257, doi. 10.1007/s00106-004-1084-2
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- Publication type:
- Article
Möglichkeiten und Grenzen der Fluoreszenzdiagnostik und photodynamischen Therapie.
- Published in:
- HNO, 2004, v. 52, n. 2, p. 175, doi. 10.1007/s00106-003-1029-1
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- Publication type:
- Article
Möglichkeiten und Grenzen der Fluoreszenzdiagnostik und photodynamischen Therapie.
- Published in:
- HNO, 2003, v. 51, n. 12, p. 1019, doi. 10.1007/s00106-003-0960-5
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- Publication type:
- Article
Isoflurane Inhalation after Induction of Endotoxemia in Rats Attenuates the Systemic Cytokine Response.
- Published in:
- European Surgical Research, 2008, v. 40, n. 1, p. 1, doi. 10.1159/000107614
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- Publication type:
- Article
Uncombable hair improved by biotin.
- Published in:
- JEADV Clinical Practice, 2023, v. 2, n. 2, p. 313, doi. 10.1002/jvc2.105
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- Publication type:
- Article
Odd-looking hair and progressive alopecia in mother and son.
- Published in:
- 2014
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- Publication type:
- journal article
Odd-Looking Hair and Progressive Alopecia in Mother and Son.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 5, p. 567, doi. 10.1001/jamadermatol.2013.8078
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- Publication type:
- Article
Kinetic Study on Acrylic Acid Polymerisations in Isopropanol.
- Published in:
- Applied Sciences (2076-3417), 2021, v. 11, n. 20, p. 9719, doi. 10.3390/app11209719
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- Publication type:
- Article
Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.
- Published in:
- Pediatric Dermatology, 2023, v. 40, n. 3, p. 466, doi. 10.1111/pde.15306
- By:
- Publication type:
- Article
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene.
- Published in:
- Pediatric Dermatology, 2014, v. 31, n. 1, p. 83, doi. 10.1111/pde.12219
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- Publication type:
- Article
An insertion mutation in <italic>HOXC13</italic> underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Functional implications of novel <italic>ADAM10</italic> mutations in reticulate acropigmentation of Kitamura.
- Published in:
- 2017
- By:
- Publication type:
- Letter to the Editor
Investigation of variants of the aromatase gene ( CYP19A1) in female pattern hair loss.
- Published in:
- British Journal of Dermatology, 2011, v. 165, n. 3, p. 703, doi. 10.1111/j.1365-2133.2011.10456.x
- By:
- Publication type:
- Article
Systematic mutation screening of KRT5 supports the hypothesis that Galli–Galli disease is a variant of Dowling–Degos disease.
- Published in:
- British Journal of Dermatology, 2010, v. 163, n. 1, p. 197, doi. 10.1111/j.1365-2133.2010.09741.x
- By:
- Publication type:
- Article
The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 2, p. 389, doi. 10.1111/j.1365-2133.2007.08312.x
- By:
- Publication type:
- Article
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.
- Published in:
- British Journal of Dermatology, 2005, v. 153, n. 6, p. 1216, doi. 10.1111/j.1365-2133.2005.06958.x
- By:
- Publication type:
- Article
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 218, doi. 10.1038/90050
- By:
- Publication type:
- Article
Genetik der kongenitalen Aniridie.
- Published in:
- Der Ophthalmologe, 2014, v. 111, n. 12, p. 1157, doi. 10.1007/s00347-014-3059-3
- By:
- Publication type:
- Article
Generalized Solar Lentigines in a Patient with a History of Radon Exposure.
- Published in:
- Dermatology (10188665), 2010, v. 221, n. 3, p. 206, doi. 10.1159/000316091
- By:
- Publication type:
- Article
Sodium Thiosulphate as a Promising Therapeutic Option to Treat Calciphylaxis.
- Published in:
- Dermatology (10188665), 2006, v. 212, n. 4, p. 373, doi. 10.1159/000092290
- By:
- Publication type:
- Article
Encounters with Grief.
- Published in:
- Gerontologist, 1996, v. 36, n. 5, p. 718
- By:
- Publication type:
- Article
Audiovisual reviews.
- Published in:
- 1994
- By:
- Publication type:
- Entertainment Review