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Steffen Uebe

Showing results (21-30 of 88) with videos related to

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European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
The Journal of Experimental Medicine|June 2, 2017
Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcriptionKenia Ubieta, Mireia Garcia, Bettina Grötsch, et al.
European Journal of Medical Genetics|October 2, 2013
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlationRebecca Buchert, Steffen Uebe, Farah Radwan, et al.
JBMR Plus|July 22, 2022
Interspecies Single-Cell RNA-Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic TargetsYasunori Omata, Hiroyuki Okada, Steffen Uebe, et al.
European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
Annals of the Rheumatic Diseases|July 4, 2018
Systematic approach demonstrates enrichment of multiple interactions between non-<i>HLA</i> risk variants and <i>HLA-DRB1</i> risk alleles in rheumatoid arthritisLina-Marcela Diaz-Gallo, Daniel Ramsköld, Klementy Shchetynsky, et al.
Plos Genetics|March 22, 2013
Rare copy number variants are a common cause of short statureDiana Zahnleiter, Steffen Uebe, Arif B Ekici, et al.
Neurogenetics|July 25, 2018
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, et al.
Journal of Clinical Medicine|July 15, 2026
Developmental and Structural Alterations at the Ductus-Aortic Isthmus Interface in Infantile Coarctation of the Aorta: A Biological Basis for Persistent Vascular Disease Beyond Anatomical RepairIsabell G Robl, Robert Cesnjevar, Arif B Ekici, et al.
Pageof 9

Showing results (21-30 of 88) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
The Journal of Experimental Medicine|June 2, 2017
Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcriptionKenia Ubieta, Mireia Garcia, Bettina Grötsch, et al.
European Journal of Medical Genetics|October 2, 2013
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlationRebecca Buchert, Steffen Uebe, Farah Radwan, et al.
JBMR Plus|July 22, 2022
Interspecies Single-Cell RNA-Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic TargetsYasunori Omata, Hiroyuki Okada, Steffen Uebe, et al.
European Journal of Medical Genetics|July 6, 2020
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2Katalin L M L Hetzelt, Cornelia Kraus, Stefan Kusnik, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
Annals of the Rheumatic Diseases|July 4, 2018
Systematic approach demonstrates enrichment of multiple interactions between non-<i>HLA</i> risk variants and <i>HLA-DRB1</i> risk alleles in rheumatoid arthritisLina-Marcela Diaz-Gallo, Daniel Ramsköld, Klementy Shchetynsky, et al.
Plos Genetics|March 22, 2013
Rare copy number variants are a common cause of short statureDiana Zahnleiter, Steffen Uebe, Arif B Ekici, et al.
Neurogenetics|July 25, 2018
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, et al.
Journal of Clinical Medicine|July 15, 2026
Developmental and Structural Alterations at the Ductus-Aortic Isthmus Interface in Infantile Coarctation of the Aorta: A Biological Basis for Persistent Vascular Disease Beyond Anatomical RepairIsabell G Robl, Robert Cesnjevar, Arif B Ekici, et al.
Pageof 9