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Mathis Hildonen
Mathis Hildonen
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
在 regionh.dk 的电子邮件经过验证
标题
引用次数
引用次数
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Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome
M Hildonen, AM Levy, C Dahl, VA Bjerregaard, L Birk Møller, P Guldberg, ...
Genes 12 (1), 86, 2021
162021
A comparison of storage methods for gut microbiome studies in teleosts: insights from rainbow trout (Oncorhynchus mykiss)
M Hildonen, M Kodama, LC Puetz, MTP Gilbert, MT Limborg
Journal of microbiological methods 160, 42-48, 2019
142019
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
A Rasmussen, M Hildonen, J Vissing, M Duno, Z Tümer, U Birkedal
Genes 13 (6), 970, 2022
122022
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
M Hildonen, KL Knak, M Dunø, J Vissing, Z Tümer
Genes 11 (8), 936, 2020
92020
EWAS of monozygotic twins implicate a role of mTOR pathway in pathogenesis of tic spectrum disorder
M Hildonen, AM Levy, CS Hansen, J Bybjerg-Grauholm, A Skytthe, ...
Genes 12 (10), 1510, 2021
72021
Germline (epi) genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
UK Stoltze, M Hildonen, TVO Hansen, J Foss-Skiftesvik, A Byrjalsen, ...
Journal of Medical Genetics 60 (9), 842-849, 2023
52023
DNA methylation signature classification of rare disorders using publicly available methylation data
M Hildonen, M Ferilli, TD Hjortshøj, M Dunø, L Risom, M Bak, J Ek, ...
Clinical Genetics 103 (6), 688-692, 2023
22023
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
M Niceta, A Ciolfi, M Ferilli, L Pedace, C Cappelletti, C Nardini, ...
European Journal of Human Genetics, 1-8, 2024
12024
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
VA Bjerregaard, AM Levy, MS Batz, R Salehi, M Hildonen, TB Hammer, ...
Genes 14 (2), 246, 2023
12023
P386 Molecular biomarkers in myotonic dystrophy type 1
A Slipsager, M Hildonen, MG Stemmerik, Z Tümer, M Dunø, U Birkedal, ...
Neuromuscular Disorders 33, S155, 2023
2023
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. Genes 2023, 14, 246
VA Bjerregaard, AM Levy, MS Batz, R Salehi, M Hildonen, TB Hammer, ...
2023
COMPREHENSIVE GERMLINE GENOMICS OF PATIENTS WITH WILMS TUMOR REVEALS A HIGH LEVEL OF PREDISPOSITION IN FEMALES
U Stoltze, M Hildonen, J Brok, T Hansen, M Lundsgaard, K Grønskov, ...
Pediatric Blood & Cancer 69 (Suppl. 5), S67, 2022
2022
Mitochondrial dysfunction in FOXG1 syndrome
VA Bjerregaard, AM Levy, M Hildonen, RS Moller, TB Hammer, Z Tumer
European Journal of Human Genetics 30 (Suppl. 1), 25, 2022
2022
Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in Gilles de la Tourette syndrome
AM Levy, M Hildonen, C Dahl, VA Bjerregaard, LB Moller, P Guldberg, ...
European Journal of Human Genetics 30 (Suppl. 1), 279, 2022
2022
Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome. Genes 2021, 12, 86
M Hildonen, AM Levy, C Dahl, VA Bjerregaard, L Birk Møller, P Guldberg, ...
s Note: MDPI stays neu-tral with regard to jurisdictional clai-ms in …, 2021
2021
EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder. Genes 2021, 12, 1510
M Hildonen, AM Levy, CS Hansen, J Bybjerg-Grauholm, A Skytthe, ...
s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021
2021
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