Associated Papers
KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.
Indelicato E et al.
Frontiers in Neurology, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.
Dhar D et al.
Journal of Movement Disorders, 2023
37309110 (PubMed )
Supplement: jmd-23035-Supplementary-Table-3.pdf
Episignature analysis of moderate effects and mosaics.
Oexle K et al.
European Journal of Human Genetics : Ejhg, 2023
37365401 (PubMed )
Supplement: 41431_2023_1406_MOESM4_ESM.xlsx › KMT2B
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.
Abel M et al.
Frontiers in Neurology, 2021
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Mahfouz NA et al.
Computational and Structural Biotechnology Journal, 2020
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