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Almuth Caliebe

Showing results (21-30 of 81) with videos related to

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Epigenomics|November 7, 2015
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndromeSusanne Bens, Julia Kolarova, Gabriele Gillessen-Kaesbach, et al.
Journal of Child Neurology|July 27, 2012
CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patientsJohanna Jähn, Almuth Caliebe, Sarah von Spiczak, et al.
European Journal of Human Genetics : EJHG|December 11, 2008
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeDeniz Kanber, Jacques Giltay, Dagmar Wieczorek, et al.
European Journal of Medical Genetics|March 3, 2011
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and reviewJan Weichert, Andreas Schröer, Feriel Amari, et al.
Frontiers in Oncology|June 13, 2022
Case Report: <i>GNAQ</i>- and <i>SF3B1</i> Mutations in an Aggressive Case of Relapsing Uveal Ring MelanomaMichelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, et al.
Fertility and Sterility|February 15, 2014
Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2Carolin Friemel, Ole Ammerpohl, Jana Gutwein, et al.
Journal of Perinatal Medicine|April 17, 2012
Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcomeChristel Eckmann-Scholz, Julia Mallek, Constantin S von Kaisenberg, et al.
Plos One|October 17, 2013
Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defectsJasmin Beygo, Ole Ammerpohl, Daniela Gritzan, et al.
Molecular Cytogenetics|September 7, 2010
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case reportChristel Eckmann-Scholz, Stefan Gesk, Inga Nagel, et al.
European Journal of Pediatrics|August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
Epigenomics|November 7, 2015
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndromeSusanne Bens, Julia Kolarova, Gabriele Gillessen-Kaesbach, et al.
Journal of Child Neurology|July 27, 2012
CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patientsJohanna Jähn, Almuth Caliebe, Sarah von Spiczak, et al.
European Journal of Human Genetics : EJHG|December 11, 2008
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeDeniz Kanber, Jacques Giltay, Dagmar Wieczorek, et al.
European Journal of Medical Genetics|March 3, 2011
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and reviewJan Weichert, Andreas Schröer, Feriel Amari, et al.
Frontiers in Oncology|June 13, 2022
Case Report: <i>GNAQ</i>- and <i>SF3B1</i> Mutations in an Aggressive Case of Relapsing Uveal Ring MelanomaMichelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, et al.
Fertility and Sterility|February 15, 2014
Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2Carolin Friemel, Ole Ammerpohl, Jana Gutwein, et al.
Journal of Perinatal Medicine|April 17, 2012
Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcomeChristel Eckmann-Scholz, Julia Mallek, Constantin S von Kaisenberg, et al.
Plos One|October 17, 2013
Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defectsJasmin Beygo, Ole Ammerpohl, Daniela Gritzan, et al.
Molecular Cytogenetics|September 7, 2010
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case reportChristel Eckmann-Scholz, Stefan Gesk, Inga Nagel, et al.
European Journal of Pediatrics|August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
Pageof 9