Tess Holling
3PUBLICATIONS
92CO-AUTHORS
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Publications (3)
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|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Elsa Leitão, Amandine Santini, Benjamin Cogne
|Jul 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady
|Sep 09, 2022
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.Christiane K Bauer, Tess Holling, Denise Horn
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Frequent Collaborators
2 joint publications
Kerstin Kutsche
1 joint publications
Christiane K Bauer
1 joint publications
Denise Horn
1 joint publications
Mário Nôro Laço
1 joint publications
Ebtesam Abdalla
1 joint publications
Omneya Magdy Omar
1 joint publications
Malik Alawi
1 joint publications
Elsa Leitão
1 joint publications
Amandine Santini
1 joint publications
Benjamin Cogne
