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Hannele Koillinen

University of Helsinki

18

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537

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PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

2018 Journal of Human Genetics
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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

2018 Human Mutation
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Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

2018 American Journal of Medical Genetics Part A
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Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants

2017
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Three unrelated patients with 17q11.2 microdeletion sharing a similar phenotype

2016
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Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and epilepsy

2015 Human Mutation
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Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency

2014 Journal of Clinical Immunology
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Targeted oligonucleotide-selective sequencing of 101 genes from 150 patients with idiopathic dilated cardiomyopathy in Finland

2014 Heart Lung and Circulation
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Five new cases of a recently described leukoencephalopathy with high brain lactate

2004 Neurology
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

2003 European Journal of Human Genetics
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