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Birgit Zirn

University of Göttingen

16

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1043

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Genetics of intellectual disability in consanguineous families

2018 Molecular Psychiatry
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FOXG1 Syndrome: Genotype–Phenotype Association in 84 Patients with FOXG1 Variants

2017 Neuropediatrics
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Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life

2016 Clinical Genetics
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A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females

2013
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Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

2013 Neuropediatrics
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Array CGH in children and adolescents with developmental delay or intellectual disability: are there phenotypic clues to clinically relevant chromosomal microaberrations?

2012 Neuropediatrics
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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

2012 Lancet Neurology
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Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma

2012 Clinical Genetics
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

2012 Nature Genetics
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Ring chromosome 22 and neurofibromatosis type II: proof of two hit model for the loss of the NF2 gene in the development of meningioma

2012 Neuropediatrics
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