Kirsten Cremer

Kirsten Cremer

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Kirsten Cremer

Kirsten Cremer

Publications by authors named "Kirsten Cremer"

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23Publications

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Hum Genet 2018 May 23;137(5):401-411. Epub 2018 May 23.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-018-1892-1DOI Listing
May 2018

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.

Birth Defects Res A Clin Mol Teratol 2016 Jan 17;106(1):16-26. Epub 2015 Dec 17.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/bdra.23458DOI Listing
January 2016

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

J Neurol Sci 2015 Feb 3;349(1-2):105-9. Epub 2015 Jan 3.

Department of Human Genetics, Ruhr-University, Bochum, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.12.036DOI Listing
February 2015

Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected.

Eur J Med Genet 2008 Nov-Dec;51(6):685-8. Epub 2008 Jul 31.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800102
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http://dx.doi.org/10.1016/j.ejmg.2008.07.006DOI Listing
March 2009