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Publications by C. Buller

Molecular Effects of Eya1 Domain Mutations Causing Organ Defects in BOR Syndrome

Human Molecular Genetics
MedicineGeneticsMolecular Biology
2001English

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BOR-Syndrome-Associated Eya1 Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein

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Structural Basis of Bloom Syndrome (BS) Causing Mutations in the BLM Helicase Domain

Molecular Medicine
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2000English

Identification of Mutations Causing Temperature-Sensitive Defects in Semliki Forest Virus RNA Synthesis

Journal of Virology
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2006English

Functional Consequences of Mitochondrial tRNATrp and tRNAArg Mutations Causing Combined OXPHOS Defects

European Journal of Human Genetics
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2009English

Mutations in LAMB2 Causing a Severe Form of Synaptic Congenital Myasthenic Syndrome

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High-Sensitivity Sequencing Reveals Multi-Organ Somatic Mosaicism Causing DICER1 Syndrome

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Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

International Journal of Molecular Sciences
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Newly Discovered Mutations in the GALNT3 Gene Causing Autosomal Recessive Hyperostosis-Hyperphosphatemia Syndrome

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MECP2 Mutations Associated With Rett Syndrome - Molecular Approaches

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