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European Journal of Human Genetics : EJHG
|
October 16, 2003
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal
Frank J Kaiser, Paola Brega, Michael L Raff, et al.
The American Journal of Pathology
|
May 7, 2013
Functional interaction of osteogenic transcription factors Runx2 and Vdr in transcriptional regulation of Opn during soft tissue calcification
Ann-Kathrin Sowa, Frank J Kaiser, Juliane Eckhold, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability
Martin Grosse, Alma Kuechler, Tabib Dabir, et al.
European Journal of Medical Genetics
|
November 21, 2017
Novel mosaic variants in two patients with Cornelia de Lange syndrome
Jelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, et al.
Annals of Neurology
|
October 27, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
Frank J Kaiser, Alma Osmanoric, Aleksandar Rakovic, et al.
Journal of Medical Genetics
|
October 13, 2022
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
Jakob A Meinel, Verónica Yumiceba, Axel Künstner, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 6, 2021
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model
Hauke Baumann, Fabian Ott, Joachim Weber, et al.
Skeletal Muscle
|
July 18, 2024
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Celine Chiu, Alma Küchler, Christel Depienne, et al.
Biochimica Et Biophysica Acta
|
August 5, 2014
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression
Alev Erogullari, Ronja Hollstein, Philip Seibler, et al.
Human Mutation
|
September 9, 2014
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics
Diana Braunholz, Carolin Obieglo, Ilaria Parenti, et al.
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of 11
Search research articles
Search
Showing results (21-30 of 101) with videos related to
Sort By:
Page
of 11
European Journal of Human Genetics : EJHG
|
October 16, 2003
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal
Frank J Kaiser, Paola Brega, Michael L Raff, et al.
The American Journal of Pathology
|
May 7, 2013
Functional interaction of osteogenic transcription factors Runx2 and Vdr in transcriptional regulation of Opn during soft tissue calcification
Ann-Kathrin Sowa, Frank J Kaiser, Juliane Eckhold, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability
Martin Grosse, Alma Kuechler, Tabib Dabir, et al.
European Journal of Medical Genetics
|
November 21, 2017
Novel mosaic variants in two patients with Cornelia de Lange syndrome
Jelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, et al.
Annals of Neurology
|
October 27, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
Frank J Kaiser, Alma Osmanoric, Aleksandar Rakovic, et al.
Journal of Medical Genetics
|
October 13, 2022
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
Jakob A Meinel, Verónica Yumiceba, Axel Künstner, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 6, 2021
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model
Hauke Baumann, Fabian Ott, Joachim Weber, et al.
Skeletal Muscle
|
July 18, 2024
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Celine Chiu, Alma Küchler, Christel Depienne, et al.
Biochimica Et Biophysica Acta
|
August 5, 2014
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression
Alev Erogullari, Ronja Hollstein, Philip Seibler, et al.
Human Mutation
|
September 9, 2014
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics
Diana Braunholz, Carolin Obieglo, Ilaria Parenti, et al.
Page
of 11