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Automatized detection of uniparental disomies in a large cohort.

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Title: Automatized detection of uniparental disomies in a large cohort.
Authors: Moch J; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Radtke M; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Liehr T; Institute of Human Genetics, Jena University, Jena, Germany., Eggermann T; Institute of Human Genetics and Genomic Medicine, Aachen University, Aachen, Germany., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hentschel J; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Schumann I; Institute of Human Genetics, Leipzig University, Leipzig, Germany. isabell.schumann@medizin.uni-leipzig.de.
Source: Human genetics [Hum Genet] 2024 Aug; Vol. 143 (8), pp. 955-964. Date of Electronic Publication: 2024 Jul 16.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Automatized detection of uniparental disomies in a large cohort.
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  Data: <searchLink fieldCode="AU" term="%22Moch+J%22">Moch J</searchLink>; Institute of Human Genetics, Leipzig University, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Radtke+M%22">Radtke M</searchLink>; Institute of Human Genetics, Leipzig University, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Liehr+T%22">Liehr T</searchLink>; Institute of Human Genetics, Jena University, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Eggermann+T%22">Eggermann T</searchLink>; Institute of Human Genetics and Genomic Medicine, Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Astuti+G%22">Astuti G</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hentschel+J%22">Hentschel J</searchLink>; Institute of Human Genetics, Leipzig University, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Schumann+I%22">Schumann I</searchLink>; Institute of Human Genetics, Leipzig University, Leipzig, Germany. isabell.schumann@medizin.uni-leipzig.de.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Aug; Vol. 143 (8), pp. 955-964. <i>Date of Electronic Publication: </i>2024 Jul 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s00439-024-02687-w
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              Text: 2024 Aug
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