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Steffen Uebe

Showing results (61-70 of 88) with videos related to

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Human Molecular Genetics|February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rebecca Buchert, Mi Zhou, et al.
Kidney International|March 28, 2014
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulinArif B Ekici, Thomas Hackenbeck, Vincent Morinière, et al.
Elife|September 20, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Louise A Stephen, Hasan Tawamie, Gemma M Davis, et al.
Nature Communications|May 24, 2017
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1Francesca Pasutto, Matthias Zenkel, Ursula Hoja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.
Annals of the Rheumatic Diseases|April 30, 2015
PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locusJohn Bowes, Sabine Loehr, Ashley Budu-Aggrey, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
Journal of Autoimmunity|February 24, 2024
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO)Amandine Charras, Sigrun R Hofmann, Allison Cox, et al.
Arthritis and Rheumatism|February 13, 2013
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitisMaria Apel, Steffen Uebe, John Bowes, et al.
International Journal of Cancer|January 30, 2019
TRIM28 haploinsufficiency predisposes to Wilms tumorIllja J Diets, Juliane Hoyer, Arif B Ekici, et al.
Pageof 9

Showing results (61-70 of 88) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rebecca Buchert, Mi Zhou, et al.
Kidney International|March 28, 2014
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulinArif B Ekici, Thomas Hackenbeck, Vincent Morinière, et al.
Elife|September 20, 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Louise A Stephen, Hasan Tawamie, Gemma M Davis, et al.
Nature Communications|May 24, 2017
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1Francesca Pasutto, Matthias Zenkel, Ursula Hoja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.
Annals of the Rheumatic Diseases|April 30, 2015
PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locusJohn Bowes, Sabine Loehr, Ashley Budu-Aggrey, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
Journal of Autoimmunity|February 24, 2024
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO)Amandine Charras, Sigrun R Hofmann, Allison Cox, et al.
Arthritis and Rheumatism|February 13, 2013
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitisMaria Apel, Steffen Uebe, John Bowes, et al.
International Journal of Cancer|January 30, 2019
TRIM28 haploinsufficiency predisposes to Wilms tumorIllja J Diets, Juliane Hoyer, Arif B Ekici, et al.
Pageof 9