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Almuth Caliebe

Showing results (51-60 of 81) with videos related to

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European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Blood|August 23, 2017
Hematopoietic stem cell involvement in <i>BCR-ABL1-</i>positive ALL as a potential mechanism of resistance to blinatumomab therapyInga Nagel, Marius Bartels, Johannes Duell, et al.
European Journal of Medical Genetics|April 13, 2010
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU geneAlmuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 23, 2011
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiencySebastian Fuchs, Anne Rensing-Ehl, Carsten Speckmann, et al.
Epigenomics|June 21, 2016
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesSusanne Bens, Julia Kolarova, Jasmin Beygo, et al.
Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
American Journal of Human Genetics|April 23, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological DevelopmentElisa De Franco, Rachel A Watson, Wolfgang J Weninger, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
Pageof 9

Showing results (51-60 of 81) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Blood|August 23, 2017
Hematopoietic stem cell involvement in <i>BCR-ABL1-</i>positive ALL as a potential mechanism of resistance to blinatumomab therapyInga Nagel, Marius Bartels, Johannes Duell, et al.
European Journal of Medical Genetics|April 13, 2010
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU geneAlmuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 23, 2011
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiencySebastian Fuchs, Anne Rensing-Ehl, Carsten Speckmann, et al.
Epigenomics|June 21, 2016
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesSusanne Bens, Julia Kolarova, Jasmin Beygo, et al.
Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
American Journal of Human Genetics|April 23, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological DevelopmentElisa De Franco, Rachel A Watson, Wolfgang J Weninger, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
Pageof 9