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Marian Kroos

Showing results (1-10 of 6) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 19, 2012
The genotype-phenotype correlation in Pompe diseaseMarian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, et al.
Human Mutation|May 31, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variantsMarian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, et al.
Human Mutation|September 23, 2014
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approachAtze J Bergsma, Marian Kroos, Marianne Hoogeveen-Westerveld, et al.
Human Mutation|April 22, 2008
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingMarian Kroos, Robert J Pomponio, Laura van Vliet, et al.
Human Mutation|June 30, 2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severityMonica Y Niño, Stijn L M In 't Groen, Atze J Bergsma, et al.
Human Mutation|April 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius SyndromeHannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist, et al.
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Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 19, 2012
The genotype-phenotype correlation in Pompe diseaseMarian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, et al.
Human Mutation|May 31, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variantsMarian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, et al.
Human Mutation|September 23, 2014
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approachAtze J Bergsma, Marian Kroos, Marianne Hoogeveen-Westerveld, et al.
Human Mutation|April 22, 2008
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingMarian Kroos, Robert J Pomponio, Laura van Vliet, et al.
Human Mutation|June 30, 2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severityMonica Y Niño, Stijn L M In 't Groen, Atze J Bergsma, et al.
Human Mutation|April 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius SyndromeHannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist, et al.
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