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Dr. med. Melissa Pauly
List of publications:
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Institute of Human Genetics
Publications
(12)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Authored book
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Translation
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Thesis
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Conference contribution
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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025)
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, et al.
Journal article
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024)
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al.
Journal article
Pathogenic PHIP Variants are Variably Associated With CAKUT (2024)
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, et al.
Journal article
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024)
Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al.
Journal article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024)
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al.
Journal article
Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1. (2024)
Pauly M, Hüffmeier U, Schmitt-Haendle M
Journal article
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review (2023)
Al-Kateb H, Au PY, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, et al.
Journal article
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay (2023)
Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, et al.
Journal article
SRD5A3-CDG: Twins with an intragenic tandem duplication (2022)
Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al.
Journal article
Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022)
Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al.
Conference contribution
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