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Human Genetics
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February 27, 2026
A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly
Debora Tibbe, Tess Holling, Michael Spohn, et al.
Plos One
|
June 16, 2021
Functional analysis of CASK transcript variants expressed in human brain
Debora Tibbe, Yingzhou Edward Pan, Carsten Reißner, et al.
Molecular Neurobiology
|
September 1, 2023
The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling
Daniel Woike, Debora Tibbe, Fatemeh Hassani Nia, et al.
Life Science Alliance
|
September 22, 2022
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Debora Tibbe, Pia Ferle, Christoph Krisp, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
February 19, 2026
Tagungsbericht GfH-Juniorakademie 2025: Junge Humangenetik auf Schloss Buchenau: Austausch, Vernetzung und neue Perspektiven
Isabell Schumann, Hanna Salchow, Simone Ahting, et al.
Journal of Neurochemistry
|
December 1, 2025
Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK
Debora Tibbe, Hans-Hinrich Hönck, Neha Bhatia, et al.
Nucleic Acids Research
|
October 16, 2025
Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome
TingYu M Liu, Debora Tibbe, Jan Broder Engler, et al.
Scientific Reports
|
January 19, 2022
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Daniel Woike, Emily Wang, Debora Tibbe, et al.
Journal of Neurochemistry
|
October 22, 2020
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization
Yingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, et al.
Molecular Psychiatry
|
November 30, 2022
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
Fatemeh Hassani Nia, Daniel Woike, Isabel Bento, et al.
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Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Human Genetics
|
February 27, 2026
A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly
Debora Tibbe, Tess Holling, Michael Spohn, et al.
Plos One
|
June 16, 2021
Functional analysis of CASK transcript variants expressed in human brain
Debora Tibbe, Yingzhou Edward Pan, Carsten Reißner, et al.
Molecular Neurobiology
|
September 1, 2023
The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling
Daniel Woike, Debora Tibbe, Fatemeh Hassani Nia, et al.
Life Science Alliance
|
September 22, 2022
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Debora Tibbe, Pia Ferle, Christoph Krisp, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
February 19, 2026
Tagungsbericht GfH-Juniorakademie 2025: Junge Humangenetik auf Schloss Buchenau: Austausch, Vernetzung und neue Perspektiven
Isabell Schumann, Hanna Salchow, Simone Ahting, et al.
Journal of Neurochemistry
|
December 1, 2025
Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK
Debora Tibbe, Hans-Hinrich Hönck, Neha Bhatia, et al.
Nucleic Acids Research
|
October 16, 2025
Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome
TingYu M Liu, Debora Tibbe, Jan Broder Engler, et al.
Scientific Reports
|
January 19, 2022
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Daniel Woike, Emily Wang, Debora Tibbe, et al.
Journal of Neurochemistry
|
October 22, 2020
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization
Yingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, et al.
Molecular Psychiatry
|
November 30, 2022
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
Fatemeh Hassani Nia, Daniel Woike, Isabel Bento, et al.
Page
of 2