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Margarita Stefanova
Margarita Stefanova
University of Gothenburg
Genetics
Biology
Intellectual disability
Phenotype
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5
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37
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A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants
2019
Molecular Syndromology
Anna Sandestig
Anna Green
Johan Aronsson
Katarina Ellnebo
Margarita Stefanova
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Citations (2)
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
2019
Molecular Syndromology
Anna Sandestig
Karolina Engström
Alexander Pepler
Ingela Danielsson
Per Odelberg-Johnsson
Saskia Biskup
Anja Holz
Margarita Stefanova
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UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene
2015
American Journal of Medical Genetics Part A
Sofia Thunstrom
Liv Sodermark
Liz Ivarsson
Lena Samuelsson
Margarita Stefanova
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Citations (12)
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
2014
Journal of Human Genetics
Toshiyuki Yamamoto
Anna Wilsdon
Shelagh Joss
Bertrand Isidor
Anna Erlandsson
Mohnish Suri
Noriko Sangu
Shino Shimada
Keiko Shimojima
Cédric Le Caignec
Lena Samuelsson
Margarita Stefanova
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Citations (18)
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
2013
European Journal of Medical Genetics
Irina Hüning
Kerstin Kutsche
Saideh Rajaei
Anna Erlandsson
Lovisa Lovmar
Julia Rundberg
Margarita Stefanova
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Citations (2)
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