Search Results - "Stieler, K"
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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function
Published in British journal of dermatology (1951) (01-08-2017)“…Summary Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders characterized by…”
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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
Published in Acta dermato-venereologica (01-01-2016)“…Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform…”
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Harlequin ichthyosis--medical and psychosocial challenges
Published in Klinische Padiatrie (01-03-2010)“…Harlequin ichthyosis is the most severe congenital keratinizing disorder. It is caused by mutations in the ABCA12 gene leading to defective lipid transport…”
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Predicting survival in older patients treated for cervical spine fractures: development of a clinical survival score
Published in The spine journal (01-09-2019)“…Emerging literature has identified the importance of pretreatment health and functional status as influential in the prognostication of survival. A…”
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Erythematosquamous dermatoses in adolescence
Published in Hautarzt (01-04-2016)“…Erythematosquamous dermatoses in adolescents comprise a wide range of differential diagnoses. Age-typical variations of the clinical manifestation, the need to…”
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What factors affect fluoroscopy use during Bernese periacetabular osteotomy for acetabular dysplasia?
Published in Journal of hip preservation surgery (01-08-2019)“…Abstract Periacetabular osteotomy (PAO) is the treatment of choice for acetabular dysplasia in the skeletally mature. Little is known about factors affecting…”
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1158PBlood-based testing of mutations in patients with head and neck squamous cell carcinoma (HNSCC) using highly sensitive SafeSEQ technology
Published in Annals of oncology (01-10-2019)“…Abstract Background Tumour molecular profiling in HNSCC is not routinely incorporated into clinical practice due to lack of validated biomarkers. Liquid biopsy…”
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1158P - Blood-based testing of mutations in patients with head and neck squamous cell carcinoma (HNSCC) using highly sensitive SafeSEQ technology
Published in Annals of oncology (01-10-2019)“…Tumour molecular profiling in HNSCC is not routinely incorporated into clinical practice due to lack of validated biomarkers. Liquid biopsy represents…”
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Blood-based testing of mutations in patients with head and neck squamous cell carcinoma (HNSCC) using highly sensitive SafeSEQ technology
Published in Annals of oncology (01-10-2019)Get full text
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Seven- and 23-year-old Siblings with Papulonodular Lesions after Sun Exposure: A Quiz
Published in Acta dermato-venereologica (30-07-2021)Get full text
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Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
Published in Acta dermato-venereologica (28-07-2020)“…Abstract is missing (Quiz)…”
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Host range and cellular tropism of the human exogenous gammaretrovirus XMRV
Published in Virology (New York, N.Y.) (30-03-2010)“…Abstract Recently, the first human infection with an exogenous gammaretrovirus (XMRV) was reported. In its initial description, XMRV was confined to prostate…”
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Detection of Functionally Active Melanocortin Receptors and Evidence for an Immunoregulatory Activity of α-Melanocyte-Stimulating Hormone in Human Dermal Papilla Cells
Published in Endocrinology (Philadelphia) (01-11-2005)“…Proopiomelanocortin (POMC)-derived peptides and their receptors have been identified in many peripheral organs including the skin in which they exert a…”
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Work and contraction curves of atrial muscle preparations during anoxia and reoxygenation influenced by cardio-tonic and cardio-depressive drugs
Published in Bratislavské lékarské listy (01-01-1991)“…Auxotonic work/beat and contraction curves were recorded from left guinea pig atria stimulated with 0.5 Hz at 5 mN preload in K.H.-solution + 15 mmol/l…”
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Some problems of cardiac energetics
Published in Basic research in cardiology (1986)“…Special problems of the aerobic metabolism in the cardiac muscle cell as an energy producing and energy consuming system are discussed and demonstrated with…”
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Detection of ACTH, MC-1R and MC-4R immunoreactivity in human terminal and vellus hair follicles
Published in Experimental dermatology (01-09-2004)“…Pro‐opiomelanocortin (POMC) peptides such as ACTH and α‐MSH play an important role in the pigmentation of human skin and hair. Both peptides bind to a family…”
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Erythematosquamöse Erkrankungen in der Adoleszenz
Published in Hautarzt (01-04-2016)“…Zusammenfassung Das differenzialdiagnostische Spektrum der erythematosquamösen Hauterkrankungen in der Adoleszenz ist sehr vielfältig. Besonderheiten in…”
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Profiling of Alopecia Areata Autoantigens Based on Protein Microarray Technology
Published in Molecular & cellular proteomics (01-09-2005)“…Protein biochips have a great potential in future parallel processing of complex samples as a research tool and in diagnostics. For the generation of protein…”
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