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Ute Grasshoff

Showing results (11-20 of 45) with videos related to

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Molecular Syndromology|October 12, 2019
Novel <i>HIVEP2</i> Variants in Patients with Intellectual DisabilityJoohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Neurobiology of Disease|August 25, 2009
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeatsJana Boy, Thorsten Schmidt, Ulrike Schumann, et al.
American Journal of Medical Genetics. Part A|October 13, 2021
Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndromeAnna-Lina König, Hemmen Sabir, Brigitte Strizek, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Genome-wide UPD screening in patients with intellectual disabilityChristopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Journal of Medical Genetics|August 24, 2019
<i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathyJoohyun Park, Bianca R Flores, Katalin Scherer, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardationUte Grasshoff, Michael Bonin, Ina Goehring, et al.
Nature Genetics|June 5, 2007
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaKarl-Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, et al.
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
British Journal of Haematology|February 3, 2012
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKLSusanne Haemmerling, Wolfgang Behnisch, Tobias Doerks, et al.
BMC Medical Genetics|August 17, 2018
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implicationsMarkus W Löffler, Julia Steinhilber, Franz J Hilke, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Molecular Syndromology|October 12, 2019
Novel <i>HIVEP2</i> Variants in Patients with Intellectual DisabilityJoohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Neurobiology of Disease|August 25, 2009
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeatsJana Boy, Thorsten Schmidt, Ulrike Schumann, et al.
American Journal of Medical Genetics. Part A|October 13, 2021
Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndromeAnna-Lina König, Hemmen Sabir, Brigitte Strizek, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Genome-wide UPD screening in patients with intellectual disabilityChristopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Journal of Medical Genetics|August 24, 2019
<i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathyJoohyun Park, Bianca R Flores, Katalin Scherer, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardationUte Grasshoff, Michael Bonin, Ina Goehring, et al.
Nature Genetics|June 5, 2007
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaKarl-Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, et al.
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
British Journal of Haematology|February 3, 2012
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKLSusanne Haemmerling, Wolfgang Behnisch, Tobias Doerks, et al.
BMC Medical Genetics|August 17, 2018
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implicationsMarkus W Löffler, Julia Steinhilber, Franz J Hilke, et al.
Pageof 5