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Tipu Sultan

4PUBLICATIONS
133CO-AUTHORS
NeurogeneticsBiomechanical engineeringMedical biochemistry - proteins and peptides (incl. medical proteomics)Developmental genetics (incl. sex determination)
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Journal

Publications (4)

Sort by Publication Date:
|Apr 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Nov 06, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Carolyn Le, Emanuela Argilli, Elizabeth George

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

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Frequent Collaborators

4 joint publications

Javeria Raza Alvi

4 joint publications

Henry Houlden

3 joint publications

Stephanie Efthymiou

2 joint publications

Tobias B Haack

2 joint publications

Dario R Alessi

2 joint publications

Ayşe Nazlı Başak

2 joint publications

Robert Steinfeld

2 joint publications

Aida M Bertoli-Avella

2 joint publications

Suzanne Lesage

2 joint publications

Peter Bauer

Frequent Collaborators

4 joint publications

Javeria Raza Alvi

4 joint publications

Henry Houlden

3 joint publications

Stephanie Efthymiou

2 joint publications

Tobias B Haack

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