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Human Mutation
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December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Amir Jahic, Sophie Hinreiner, Werner Emberger, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2016
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Amir Jahic, Anne K Erichsen, Thomas Deufel, et al.
Journal of Neuro-Oncology
|
September 3, 2008
Methylation-specific multiplex ligation-dependent probe amplification in meningiomas
Christian Ewald, Thomas Hofmann, Susanne A Kuhn, et al.
Neuroreport
|
December 25, 2002
Molecular characterization of voltage-gated sodium channels in human gliomas
Michael Schrey, Carolina Codina, Robert Kraft, et al.
Neuroscience Letters
|
July 10, 2003
Expression of voltage-gated potassium channels Kv1.3 and Kv1.5 in human gliomas
Katja Preussat, Christian Beetz, Michael Schrey, et al.
Clinical Chemistry and Laboratory Medicine
|
July 21, 2004
Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas
Christian Beetz, Armin Hartmann, Michael Kiehntopf, et al.
International Journal of Molecular Sciences
|
May 11, 2024
<i>SPAST</i> Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, et al.
Blood Cells, Molecules & Diseases
|
November 13, 2019
Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients
Marina Hovakimyan, Venkata Ajay Narendra Talabattula, Claudia Cozma, et al.
Journal of Neuro-Oncology
|
October 29, 2013
Methylation-specific multiplex ligation-dependent probe amplification and its impact on clinical findings in medulloblastoma
Denise Feierabend, Jan Walter, Susanne Grube, et al.
Clinical Genetics
|
August 11, 2021
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
Noha Musa, Mohamed A Elmonem, Christian Beetz, et al.
Page
of 16
Search research articles
Search
Showing results (11-20 of 160) with videos related to
Sort By:
Page
of 16
Human Mutation
|
December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Amir Jahic, Sophie Hinreiner, Werner Emberger, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2016
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Amir Jahic, Anne K Erichsen, Thomas Deufel, et al.
Journal of Neuro-Oncology
|
September 3, 2008
Methylation-specific multiplex ligation-dependent probe amplification in meningiomas
Christian Ewald, Thomas Hofmann, Susanne A Kuhn, et al.
Neuroreport
|
December 25, 2002
Molecular characterization of voltage-gated sodium channels in human gliomas
Michael Schrey, Carolina Codina, Robert Kraft, et al.
Neuroscience Letters
|
July 10, 2003
Expression of voltage-gated potassium channels Kv1.3 and Kv1.5 in human gliomas
Katja Preussat, Christian Beetz, Michael Schrey, et al.
Clinical Chemistry and Laboratory Medicine
|
July 21, 2004
Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas
Christian Beetz, Armin Hartmann, Michael Kiehntopf, et al.
International Journal of Molecular Sciences
|
May 11, 2024
<i>SPAST</i> Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, et al.
Blood Cells, Molecules & Diseases
|
November 13, 2019
Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients
Marina Hovakimyan, Venkata Ajay Narendra Talabattula, Claudia Cozma, et al.
Journal of Neuro-Oncology
|
October 29, 2013
Methylation-specific multiplex ligation-dependent probe amplification and its impact on clinical findings in medulloblastoma
Denise Feierabend, Jan Walter, Susanne Grube, et al.
Clinical Genetics
|
August 11, 2021
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
Noha Musa, Mohamed A Elmonem, Christian Beetz, et al.
Page
of 16